Journal articles on the topic '17-OHP'
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Ransom, Carla E., Jeanette R. Chin, Hilary A. Roeder, Tammy R. Sinclair, R. Phillips Heine, and Amy P. Murtha. "The Influence of Prior Obstetrical History on Current 17-Hydroxyprogesterone Caproate Use." Journal of Pregnancy 2011 (2011): 1–4. http://dx.doi.org/10.1155/2011/286483.
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Objective. To determine if gestational age of prior preterm delivery influences a woman's receipt of 17-hydroxyprogesterone caproate (17-OHP-C).Methods. Retrospective cohort of women eligible for 17-OHP-C at Duke Obstetrics Clinic were identified by medical record review. Sociodemographic and clinical characteristics were abstracted.Results. Of 104 eligible subjects, 82 (78.8%) were offered 17-OHP-C. Of these, thirty-four (41.5%) declined. The median gestational age of the most recent preterm delivery was significantly lower among subjects who accepted 17-OHP-C as compared to those who declined (28.7 vs. 34.0 weeks,P=.02) and in subjects offered 17-OHP-C compared to those not offered 17-OHP-C (30.2 vs. 36.0 weeks,P=.03). Subjects not offered 17-OHP-C were more likely to have had an interval term delivery (31.8% vs. 9.7%,P=.009)Conclusion. Women with earlier preterm deliveries were more likely to be offered and accept 17-OHP-C. Prior obstetric history may influence both providers' and patients' willingness to discuss and/or accept 17-OHP-C.
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Şahin, Yilmaz, Demet Ayata, and Fahrettin Keleştimur. "Lack of relationship between 17-hydroxyprogesterone response to buserelin testing and hyperinsulinemia in polycystic ovary syndrome." European Journal of Endocrinology 136, no. 4 (April 1997): 410–15. http://dx.doi.org/10.1530/eje.0.1360410.
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Abstract Objective: To determine whether hyperinsulinism affects cytochrome P450c 17α activity by investigating the correlation between 17–hydroxyprogesterone (17–OHP) hyper-responsiveness to the gonadotropin-releasing hormone (GnRH) agonist, buserelin, and the insulin response to oral glucose in polycystic ovary syndrome (PCOS). Design: Ultrasound, clinical and hormonal parameters were used to define PCOS in this prospective clinical study. We investigated the correlation between the 17–OHP response to buserelin testing and the insulin response to oral glucose in PCOS. Methods: Twenty-eight women with PCOS and eighteen normal women were included in the study. 17–OHP response to buserelin, and insulin and C–peptide responses to oral glucose were measured. Results: Twenty–live women with PCOS had an increased 17–OHP response. The PCOS patients showed significantly higher mean post–glucose load insulin and C–peptide levels than controls (P<0·05). No significant correlations were found between basal 17–OHP and fasting insulin or fasting C–peptide, between peak 17–OHP and fasting insulin, peak insulin or peak C–peptide, between 17–OHP area under the curve (AUC) and insulin AUC or C–peptide AUC, and between percent increment in 17–OHP and insulin AUC or C–peptide AUC (P >0·05). Conclusions: Lack of a relationship between the 17–OHP response to the GnRH agonist buserelin and hyperinsulinism suggests that hyperinsulinism may not play a role in the dysregulation of the cytochrome P450c17α enzyme seen in PCOS. European Journal of Endocrinology 136 410–415
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Sólyom, J., G. Gács, K. Keszei, K. Láng, J. Örley, I. Petheö, and L. Ságodi. "Detection of late-onset adrenal hyperplasia in girls with peripubertal virilization." Acta Endocrinologica 115, no. 3 (July 1987): 413–18. http://dx.doi.org/10.1530/acta.0.1150413.
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Abstract. We investigated the value of serum levels of adrenal steroids (dehydroepiandrosterone sulphate, testosterone, 17-hydroxyprogesterone, cortisol) in the identification in peripubertal females with late-onset congenital adrenal hyperplasia owing to 21-hydroxylase deficiency. Among 68 females (age 3–18 years) with virilization in childhood, peripubertally or postpubertally, we selected 21 girls for an ACTH test by measurement of basal blood-spot or serum 17-hydroxyprogesterone (17-OHP) levels. Eight of 21 patients had supranormal post-ACTH serum 17-OHP concentration (57–153 nmol/l) with low normal cortisol concentration. All of them had supranormal basal and post-ACTH 17-OHP to cortisol ratios. These data show a relatively high incidence (about 12%) of mild 21-hydroxylase deficiency among prepubertal and adolescent girls with virilization. It is concluded that the first step in the investigation of peripubertally virilized girls should be the determination of serum 17-OHP and cortisol. Patients with basal morning 17-OHP concentration and 17-OHP to cortisol ratio above reference range should be given an ACTH test.
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Plavšić, V., D. Rogić, M. Dumić, J. Ille, Lj Brkljačić, and V. Latin. "Interferences with Determination of 17-Hydroxyprogesterone in Amniotic Fluid." Clinical Chemistry 37, no. 12 (December 1, 1991): 2154–55. http://dx.doi.org/10.1093/clinchem/37.12.2154.
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Abstract Continuing our work on the problems of congenital adrenal hyperplasia (CAH) (1, 2), we have established reference values for 17-hydroxyprogesterone (17-OHP) and androstenedione (Δ4) in amniotic fluid(AF) and done 12 successful prenatal diagnoses in families at risk for CAH (3). 17-OHP was determined in the AFs of 105 women in the second trimester of pregnancy with a kit from Sorin-Biomedica (Saluggia, Italy; tritium-labeled 17-OHP, ether extraction). In another 80 pregnant women, 17-OHP was determined with a new Sorin-Biomedica kit (iodine-labeled 17-OHP, ether extraction); a DPC Coat-A-Count kit (Diagnostic Products Corp., Los Angeles, CA), with and without ether extraction; and a CIS Bio International (Gif-sur-Yvette Cedex, France) coated-tubes kit, with and without ether extraction(Table 1).
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Schreiner, Felix, Magdalini Tozakidou, Rita Maslak, Ute Holtkamp, Michael Peter, Bettina Gohlke, and Joachim Woelfle. "Functional glucocorticoid receptor gene variants do not underlie the high variability of 17-hydroxyprogesterone screening values in healthy newborns." European Journal of Endocrinology 160, no. 4 (April 2009): 667–73. http://dx.doi.org/10.1530/eje-08-0639.
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Objective17-Hydroxyprogesterone (17-OHP) screening for classical congenital adrenal hyperplasia (CAH) is part of many newborn screening programs worldwide. Cut-off values are relatively high, and screening sensitivity does not reach 100%. Recently, the glucocorticoid receptor (GR) N363S-variant has been linked to relatively low degree of virilization and comparatively lower 17-OHP serum concentrations in clinically diagnosed female CAH patients. We sought to determine whether functional GR gene variants, either increasing (N363S, BclI) or decreasing GR sensitivity (R23K), underlie the variable 17-OHP screening levels in healthy newborns.DesignGR genotypes were compared with 17-OHP screening values in 1000 random samples from routine screening. 17-OHP was measured by conventional immunoassay (TRFIA) and a liquid chromatography–tandem mass spectrometry method (LC–MS/MS), which has been shown to increase screening specificity by steroid profiling and avoiding cross-reactions of the 17-OHP-antibody.ResultsThere was no significant association of 17-OHP with GR genotypes, even after inclusion of gestational and postnatal age as covariates. However, among LC–MS/MS steroid measurements, we observed some unexpected trends, including lower 11-deoxycortisol concentrations in both 363S- and 23K-carriers. For carriers of the frequent BclI variant, linear regression analysis revealed a significant increase of 4-androstenedione levels with every mutant allele inherited.ConclusionsFunctional GR variants do not underlie the variation of 17-OHP values observed in healthy individuals. However, whether and to which extent genetically determined differences in individual GR sensitivity influence 17-OHP screening levels in conditions of a pathological hypothalamus-pituitary-adrenal gland-axis stimulation and thus may explain false-negative screening results in those affected by CAH remains to be investigated.
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Cavarzere, Paolo, Dinane Samara-Boustani, Isabelle Flechtner, Michèle Dechaux, Caroline Elie, Véronique Tardy, Yves Morel, and Michel Polak. "Transient hyper-17-hydroxyprogesteronemia: a clinical subgroup of patients diagnosed at neonatal screening for congenital adrenal hyperplasia." European Journal of Endocrinology 161, no. 2 (August 2009): 285–92. http://dx.doi.org/10.1530/eje-09-0145.
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ObjectiveNeonatal screening for congenital adrenal hyperplasia (CAH) is characterized by a high false-positive rate, mainly among preterm and low birth weight infants. The aims of this study were to describe a subgroup of infants with transient serum hyper-17-hydroxyprogesteronemia (hyper-17-OHPemia) and to compare them with false positive and affected by 21-hydroxylase deficiency newborns.MethodsWe retrospectively analyzed the clinical data of all newborns positive at CAH neonatal screening, who were referred to our hospital to confirm the diagnosis from 2002 to 2006. They were submitted to clinical investigations and blood tests to evaluate 17-hydroxyprogesterone (17-OHP), renin, and electrolyte levels. CAH-unaffected newborns with increased serum 17-OHP were submitted to strict follow-up monitoring, which included an ACTH-stimulating test and genetic analysis of the 21-hydroxylase gene, until serum 17-OHP decreased.ResultsThirty-seven newborns with gestational ages ranging from 33 to 40 weeks were studied. Eight infants (three male and five female) were affected by CAH (serum 17-OHP: 277.5 (210–921) nmol/l), 14 (ten male and four female) were false positives (17-OHP: 3.75 (0.3–8.4) nmol/l), and 15 (ten male and five female) showed a serum hyper-17-OHPemia (17-OHP: 15.9 (9.9–33) nmol/l). No mutations of the 21-hydroxylase gene were found in infants with hyper-17-OHPemia and their serum 17-OHP levels were normalized by the third month of life.ConclusionWe identified a population of infants with transient serum hyper-17-OHPemia, and no clinical signs of disease or 21-hydroxylase gene mutations. No further investigations are necessary after birth in these newborns if 17-OHP levels decrease, other confirmatory tests such as ACTH-stimulation test or genotyping analysis are necessary only if symptoms appear.
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Wallace, A. M., J. Beesley, M. Thomson, C. A. Giles, A. M. Ross, and N. F. Taylor. "Adrenal status during the first month of life in mature and premature human infants." Journal of Endocrinology 112, no. 3 (March 1987): 473–80. http://dx.doi.org/10.1677/joe.0.1120473.
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ABSTRACT Measurements of (a) 17-hydroxyprogesterone (17-OHP) in blood collected onto filter paper after heel puncture by lancet and (b) steroid metabolites in random collections of urine, were made in human infants born from 25 weeks of gestation onwards. The concentration of 17-OHP in blood eluted from filter paper samples was inversely related to both gestational age and birth weight. In mature infants, 17-OHP concentrations fell rapidly soon after birth, whereas concentrations remained high over the first month of life in infants born earlier than 33 weeks of gestation. Sulphated urinary steroids were identified as having a 3β-hydroxy-5-ene structure and although the pattern of excretion was similar in mature and premature infants, significantly higher concentrations were found in the premature group. Steroid metabolites normally present when concentrations of circulating 17-OHP are increased due to 21-hydroxylase deficiency were not detectable in urine samples collected from infants born prematurely. Where direct comparison of 17-OHP in blood spots and urinary steroid metabolites was possible, the concentrations of 17-OHP in blood samples paralleled 3β-hydroxy-5-ene steroid metabolites in urine. The results suggest that a circulating cross-reacting 3β-hydroxy-5-ene steroid may be responsible for increased concentrations of 17-OHP in infants born prematurely. Increased concentrations of both 17-OHP in blood spots and steroid sulphates in urine were associated with stress in premature, but not in more mature, infants suggesting that in infants born prematurely postnatal stress may delay adrenal maturation. J. Endocr. (1987) 112, 473–480
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Maas, Kevin H., Sandy S. Chuan, Heidi Cook-Andersen, H. Irene Su, A. Duleba, and R. Jeffrey Chang. "Relationship Between 17-Hydroxyprogesterone Responses to Human Chorionic Gonadotropin and Markers of Ovarian Follicle Morphology in Women With Polycystic Ovary Syndrome." Journal of Clinical Endocrinology & Metabolism 100, no. 1 (January 1, 2015): 293–300. http://dx.doi.org/10.1210/jc.2014-2956.
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Abstract Context: Women with polycystic ovary syndrome (PCOS) have increased 17-hydroxyprogesterone (17-OHP) responses to gonadotropin stimulation although individual variability is substantial, as reflected by exaggerated as well as normal responses. The relationship between 17-OHP responses to gonadotropin stimulation and markers of ovarian function has not been assessed. Objective: To determine whether 17-OHP responses are associated with antral follicle count (AFC), anti-Mullerian hormone (AMH), or inhibin B (Inh B) levels in PCOS and normal women. Design: Prospective study. Setting: Research center at an academic medical center. Participants: Women with PCOS (n = 18) and normal controls (n = 18). Interventions: Blood samples were obtained before and 24 hours after administration of 25 μg recombinant-human chorionic gonadotropin. Ovarian imaging was conducted with three-dimensional pelvic ultrasound. Main Outcome Measures: Basal and stimulated levels of 17-OHP, androgens, estrogen, AMH, Inh B, and AFC. Results: In women with PCOS, 17-OHP responses were heterogeneous and inversely correlated with AMH and Inh B levels, but not AFC. In a subgroup of PCOS women with exaggerated 17-OHP responses, AMH levels were equivalent to that of normal women. In PCOS women with normal 17-OHP responses, AMH levels were markedly elevated. Conclusion: Based on heterogeneous 17-OHP responses to human chorionic gonadotropin in women with PCOS, AMH levels are inversely linked to ovarian androgen production while positively correlated with AFC. These findings suggest that in PCOS, AMH production may reflect redistribution of the follicle population or regulation by intraovarian mechanisms.
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Ionova, T. A., N. Iu Kalinchenko, A. N. Tiul'pakov, and A. N. Nizhnik. "The comparative assessment of the effectiveness of immunoanalysis and tandem mass spectrometry applied for re-testing the children with suspected congenital adrenal cortical hyperplasia." Problems of Endocrinology 59, no. 2 (April 15, 2013): 12–18. http://dx.doi.org/10.14341/probl201359212-18.
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Congenital adrenal cortical hyperplasia (CAH) is one of the commonest endocrine pathologies in the children. Screening newborn infants for CAH is currently based on the measurement of 17-hydroxyprogesterone (17-OHP) levels in blood spots using the immunoenzymatic assay. However, this techniques is known to suffer relatively low specificity accounting for the high percentage of false-positive results. We compared two 17-OHP measurement tecniques, immunoenzymatic assay and liquid chromatography-tandem mass spectrometry (LC-MS/MS) employed for the additional examination of the children in whom screening for CAH revealed the enhanced blood 17-OHP levels. The study included 50 patients at the age from 7 days to 1.5 months born at different gestational ages. 17-OHP levels were measured in all of them using the immunoenzymatic assay and LC-MS/MS. The results of the study indicate that the latter technique should be regarded as the method of choice for the confirmation of diagnosis of CAH. The absence of clinical manifestations of 21-hydroxylase deficiency in the patients in whom the immunoenzymatic assay reveals the enhanced levels of 17-OHP whereas the LC-MS/MS method demonstrates the normal or only slightly elevated concentrations of 17-OHP allows to exclude diagnosis of CAH. The gestational age of the infant is the key factor in the choice of the upper threshold level of 17-OHP for the purpose of screening; the child's body weight is of low diagnostic value. The 17-OHP levels measured by LC-MS/MS in the boys may be slightly higher than the reference values compared with the girls.
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Hàn, Ngọc Thùy Dương, Thị Ngọc Lan Hoàng, Thị Thu Hiền Đào, Phạm Sỹ Cường Lê, Văn Đức Phạm, Danh Cường Trần, and Kim Phượng Đoàn Thị. "Phân tích một số yếu tố ảnh hưởng đến nồng độ 17-hydroxyprogesteron trong sàng lọc sơ sinh bệnh tăng sản thượng thận bẩm sinh." Tạp chí Phụ sản 19, no. 4 (March 7, 2022): 25–28. http://dx.doi.org/10.46755/vjog.2021.4.1319.
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Mục tiêu: Đánh giá mối liên quan giữa các yếu tố cân nặng lúc sinh, giới tính, tuổi lấy mẫu xét nghiệm và tiền sử mẹ sử dụng thuốc chứa corticosteroids với nồng độ 17-OHP sàng lọc sơ sinh.
Đối tượng và phương pháp: Nghiên cứu mô tả cắt ngang xác định nồng độ 17-OHP từ mẫu máu gót chân bằng phương pháp sắc khí lỏng khối phổ liên tục (LCMS/MS) trên 2894 trẻ sơ sinh. Nhóm nguy cơ thấp và nhóm nguy cơ cao được phân loại dựa trên ngưỡng nồng độ 17-OHP lần lượt là < 30ng/ml và >= 30 ng/ml.
Kết quả: Giá trị trung bình của nồng độ 17-OHP trong nghiên cứu là 7,1 ± 9,857 ng/ml. Giới tính không ảnh hưởng đáng kể đến nồng độ 17-OHP với p=0,51. Trong khi đó, nồng độ này cao hơn đáng kể ở trẻ sinh nhẹ cân, có điều trị thuốc trong và sau quá trình mang thai với p<0,01. Giữa các nhóm tuổi lấy mẫu khác nhau cũng cho kết quả khác biệt đáng kể đến nồng độ 17-OHP ở trẻ sơ sinh.
Kết luận: Nồng độ 17-OHP ở mẫu giấy thấm máu gót của trẻ sơ sinh chịu sự ảnh hưởng của các yếu tố như cân nặng lúc sinh, tuổi lấy mẫu xét nghiệm và tiền sử dùng thuốc chứa corticosteroids của mẹ. Nồng độ 17-OHP không bị ảnh hưởng bởi giới tính của trẻ. Nồng độ 17-OHP có xu hướng giảm khi cân nặng của trẻ sơ sinh tăng lên; tăng khi có tiền sử dùng thuốc chứa corticosteroids.
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Saedi, Saad Al, Heather Dean, William Dent, Elizabeth Stockl, and Catherine Cronin. "Screening for Congenital Adrenal Hyperplasia: The Delfia Screening Test Overestimates Serum 17-Hydroxyprogesterone in Preterm Infants." Pediatrics 97, no. 1 (January 1, 1996): 100–102. http://dx.doi.org/10.1542/peds.97.1.100.
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Objective. To compare 17-hydroxyprogesterone (17-OHP) levels measured by quantitative serum radioimmunoassay (RIA), including an extraction step, and by screening fluoroimmnoassay (FIA) on blood spots in preterm infants. Methods. Subjects were 39 healthy infants born at less than 31 weeks' gestational age. Each infant had weekly blood sampling, and RIA and FIA were performed on each sample. Results. Two hundred twenty-seven samples were taken at 28 to 41 weeks' postconceptional age. Mean ± SD 17-OHP measured by RIA was 11.4 ± 11.1 nmol/L (0.4 ± 0.4 µg/dL), and decreased over time. Mean ± SD 17-OHP measured by FIA was 38.96 ± 37.3 nmol/L, greater than 17-OHP (RIA). Log(δFIA-RIA) was inversely related to postconceptional age (R2 = .39). Conclusion. Screening FIA of blood spots overestimates levels of 17-OHP in preterm infants and should not be used to determine the likelthood of congenital adrenal hyperplasia in this population. We have abandoned FIA screening for congenital adrenal hyperplasia in infants weiging less than 1500 g.
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Melin, Johanna, Zinnia P. Parra-Guillen, Robin Michelet, Thi Truong, Wilhelm Huisinga, Niklas Hartung, Peter Hindmarsh, and Charlotte Kloft. "Pharmacokinetic/Pharmacodynamic Evaluation of Hydrocortisone Therapy in Pediatric Patients with Congenital Adrenal Hyperplasia." Journal of Clinical Endocrinology & Metabolism 105, no. 4 (March 3, 2020): e1729-e1740. http://dx.doi.org/10.1210/clinem/dgaa071.
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Abstract Objectives Patients with congenital adrenal hyperplasia (CAH) require lifelong replacement therapy with glucocorticoids. Optimizing hydrocortisone therapy is challenging, since there are no established cortisol concentration targets other than the cortisol circadian rhythm profile. 17-hydroxyprogesterone (17-OHP) concentrations are elevated in these patients and commonly used to monitor therapy. This study aimed to characterize the pharmacokinetics/pharmacodynamics (PK/PD) of cortisol using 17-OHP as a biomarker in pediatric patients with CAH and to assess different hydrocortisone dosing regimens. Methods Cortisol and 17-OHP concentrations from 30 CAH patients (7–17 years of age) receiving standard hydrocortisone replacement therapy (5–20 mg) twice (n = 17) or 3 times (n = 13) daily were used to develop a PK/PD model. Sequentially, simulated cortisol concentrations for clinically relevant 3- and 4-times daily dosing regimens were compared with cortisol and 17-OHP target ranges and to concentrations in healthy children. Results Cortisol concentration-time profiles were accurately described by a 2-compartment model with first-order absorption and expected high bioavailability (82.6%). A time-delayed model with cortisol-mediated inhibition of 17-OHP synthesis accurately described 17-OHP concentrations. The cortisol concentration inhibiting 50% of 17-OHP synthesis was 48.6 nmol/L. A 4-times-daily dosing better attained the target ranges and mimicked the cortisol concentrations throughout the 24-hour period than 3-times-daily. Conclusions A PK/PD model following hydrocortisone administration has been established. An improved dosing regimen of 38% at 06:00, 22% at 12:00, 17% at 18:00, and 22% at 24:00 of the daily hydrocortisone dose was suggested. The 4-times-daily dosing regimen was superior, avoiding subtherapeutic cortisol concentrations and better resembling the circadian rhythm of cortisol.
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Lacey, Jean M., Carla Z. Minutti, Mark J. Magera, Angela L. Tauscher, Bruno Casetta, Mark McCann, James Lymp, Si Houn Hahn, Piero Rinaldo, and Dietrich Matern. "Improved Specificity of Newborn Screening for Congenital Adrenal Hyperplasia by Second-Tier Steroid Profiling Using Tandem Mass Spectrometry." Clinical Chemistry 50, no. 3 (March 1, 2004): 621–25. http://dx.doi.org/10.1373/clinchem.2003.027193.
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Abstract Background: Newborn screening for congenital adrenal hyperplasia (CAH) involves measurement of 17α-hydroxyprogesterone (17-OHP), usually by immunoassay. Because this testing has been characterized by high false-positive rates, we developed a steroid profiling method that uses liquid chromatography–tandem mass spectrometry (LC-MS/MS) to measure 17-OHP, androstenedione, and cortisol simultaneously in blood spots. Methods: Whole blood was eluted from a 4.8-mm (3/16-inch) dried-blood spot by an aqueous solution containing the deuterium-labeled internal standard d8-17-OHP. 17-OHP, androstenedione, and cortisol were extracted into diethyl ether, which was subsequently evaporated and the residue dissolved in LC mobile phase. This extract was injected into a LC-MS/MS equipped with pneumatically assisted electrospray. The steroids were quantified in the selected-reaction monitoring mode by use of peak areas in reference to the stable-isotope-labeled internal standard. We analyzed 857 newborn blood spots, including 14 blood spots of confirmed CAH cases and 101 of false-positive cases by conventional screening. Results: Intra- and interassay CVs for 17-OHP were 7.2–20% and 3.9–18%, respectively, at concentrations of 2, 30, and 50 μg/L. At a cutoff for 17-OHP of 12.5 μg/L and a cutoff of 3.75 for the sum of peak areas for 17-OHP and androstenedione divided by the peak area for cortisol, 86 of the 101 false-positive samples were within reference values by LC-MS/MS, whereas the 742 normal and 14 true-positive results obtained by conventional screening were correctly classified. Conclusion: Steroid profiling in blood spots can identify false-positive results obtained by conventional newborn screening for CAH.
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Kösel, Siegfried, Siegfried Burggraf, Ralph Fingerhut, Helmut G. Dörr, Adelbert A. Roscher, and Bernhard Olgemöller. "Rapid Second-Tier Molecular Genetic Analysis for Congenital Adrenal Hyperplasia Attributable to Steroid 21-Hydroxylase Deficiency." Clinical Chemistry 51, no. 2 (February 1, 2005): 298–304. http://dx.doi.org/10.1373/clinchem.2004.042416.
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Abstract Background: Neonatal screening for steroid 21-hydroxylase (CYP21) deficiency is performed to identify congenital adrenal hyperplasia (CAH). The immunologic assay for 17α-hydroxyprogesterone (17-OHP) has a high rate of false positives. We assessed the potential for increasing the specificity for CAH by use of a second step involving analysis of the CYP21 gene. Methods: Between January 1999 and December 2003, a total of 810 000 newborns were screened. Of these, 7920 had to be retested because their 17-OHP values were above the cutoff of the assay. Sixty-one had positive 17-OHP values in their recall samples and were diagnosed as having CAH. We used a rapid assay for common mutations of the CYP21 gene to analyze these 61 samples. In a prospective study, 198 consecutive samples that had increased 17-OHP and 100 samples that had normal 17-OHP concentrations were genotyped. Results: Fifty-nine of 61 cases diagnosed as having CAH were confirmed genetically as CYP21 deficiencies. One patient had a 3β-hydroxysteroid dehydrogenase deficiency, and one patient carried no CYP21 mutations. The 198 increased 17-OHP results were designated as false positives after immunologic testing of recall samples. None of these samples exhibited the genetic pattern consistent with CYP21 deficiency. Conclusions: If samples with increased 17-OHP values were screened genetically, the number of retests would decrease by ∼90%, but the overall sensitivity of CAH screening would remain the same. Adding a second-tier genetic step would require a modest increase in costs, but is counterbalanced by fewer recalls, less clinical follow-up, and a reduction in unnecessary worry for families.
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Wong, T., C. H. Shackleton, T. R. Covey, and G. Ellis. "Identification of the Steroids in Neonatal Plasma that Interfere with 17 Alpha-Hydroxyprogesterone Radioimmunoassays." Clinical Chemistry 38, no. 9 (September 1, 1992): 1830–37. http://dx.doi.org/10.1093/clinchem/38.9.1830.
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Abstract Neonatal plasma contains interferents that increase the apparent 17 alpha-hydroxyprogesterone (17-OHP) content measured by direct (no-extraction) radioimmunoassay. We fractionated extracts from neonatal plasma pools by liquid chromatography with a Sephadex LH-20 column and measured 17-OHP immunoreactivity by a direct test kit. We found immunoreactivity in the free steroid and glucuronide fraction and also in the monosulfate fraction. We analyzed these two fractions by reversed-phase high-performance liquid chromatography (HPLC) and HPLC-mass spectrometry. We collected fractions and assayed for 17-OHP immunoreactivity. The HPLC fractions containing the interfering steroid monosulfates were analyzed by ion-spray mass spectrometry and, after solvolysis, by gas chromatography-mass spectrometry. Several monosulfates were identified, including those of 17 alpha-hydroxy-pregnenolone, 16 alpha-hydroxypregnenolone, pregnenolone, and several pregnenetriols. 17 alpha-Hydroxypregnenolone sulfate was the most significant interferent. Other commercially available 17-OHP assays showed similar interference when used without an extraction step. Kit manufacturers should select antibodies and protocols to minimize cross-reaction with sulfates, especially 17 alpha-hydroxypregnenolone sulfate.
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Maeda, M., H. Arakawa, A. Tsuji, Y. Yamagami, A. Isozaki, T. Takahashi, and E. Haruki. "Enzyme-linked immunosorbent assay for 17 alpha-hydroxyprogesterone in dried blood spotted on filter paper." Clinical Chemistry 33, no. 6 (June 1, 1987): 761–64. http://dx.doi.org/10.1093/clinchem/33.6.761.
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Abstract In this rapid, cost-effective, enzyme-linked immunosorbent assay for 17 alpha-hydroxyprogesterone (17-OHP) eluted from dried blood spotted on filter paper, second antibody is coated onto the microwell plate and horseradish peroxidase (EC 1.11.1.7) is the label enzyme. Antiserum to 17-OHP was prepared by using 4-(2-carboxymethylthio)-17-OHP-bovine serum albumin conjugate as immunogen. Enzyme conjugate was prepared from 4-(2-carboxymethylthio)-17-OHP and peroxidase. The blood spots are assayed in the microwells without extraction or centrifugation steps. The detection limit of the assay is 1 microgram/L, equivalent to 3.5 pg (10.6 fmol) per disc. Intra- and interassay CVs at two steroid concentrations (7.38 and 22.79 micrograms/L) ranged from 3.74 to 11.90% (n = 5), and 9.49 and 9.83% (n = 5), respectively. Results correlated well (r = 0.91) with those of a fluorescence enzyme immunoassay. The sensitivity, specificity, and precision of this method make it potentially useful in the mass screening of neonates for congenital adrenal hyperplasia.
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Robinson, Janet A., J. Dyas, I. A. Hughes, and Diana Riad-Fahmy. "Radioimmunoassay of Blood-Spot 17α-Hydroxyprogesterone in the Management of Congenital Adrenal Hyperplasia." Annals of Clinical Biochemistry: International Journal of Laboratory Medicine 24, no. 1 (January 1987): 58–65. http://dx.doi.org/10.1177/000456328702400109.
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A robust assay for routine measurement of blood-spot 17α-hydroxyprogesterone (17-OHP) concentrations has been developed using a magnetisable, solid-phase antiserum and an 125I-radioligand. The working range of this assay (13.5–500 nmol/L) is well suited for the initial diagnosis of congenital adrenal hyperplasia (CAH) and for monitoring replacement therapy in CAH patients. Data derived from multiple blood-spot samples, collected on two consecutive days, provide 17-OHP profiles. These profiles have been used to construct a chart allowing a rapid visual assessment of the efficacy of replacement therapy in CAH patients. Measurement of 17-OHP in the blood-spots of over-treated patients and accurate determination of normal range values in healthy infants relied on development of a sensitive assay (range 1.7–34 nmol/L). In the blood-spots of normal male ( n=50) and female ( n=50) infants collected 5–7 days after birth, 17-OHP concentrations were 7.62±2.55 nmol/L and 7.32±2.87 nmol/L respectively. Retrospective measurement of this steroid in samples from known CAH patients ( n=4), which had values ranging from 224 to 2145 nmol/L, support a role for measurement of blood-spot 17-OHP in high-risk screening programmes.
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Wong, Felix C. K., Angela Z. Chan, W. S. Wong, Angel H. W. Kwan, Tracy S. M. Law, Jacqueline P. W. Chung, Jeffrey S. S. Kwok, and Angel O. K. Chan. "Hyperandrogenism, Elevated 17-Hydroxyprogesterone and Its Urinary Metabolites in a Young Woman with Ovarian Steroid Cell Tumor, Not Otherwise Specified: Case Report and Review of the Literature." Case Reports in Endocrinology 2019 (October 27, 2019): 1–8. http://dx.doi.org/10.1155/2019/9237459.
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We describe a case of a 24-year-old overweight woman who presented with hirsutism, secondary amenorrhea, clitoromegaly, and symptoms of diabetes mellitus (DM). While a diagnosis of polycystic ovary syndrome (PCOS) with its associated metabolic disturbances was initially considered, serum total testosterone, androstenedione, and 17-hydroxyprogesterone (17-OHP) measured by liquid chromatography tandem mass spectrometry (LC-MS/MS) were significantly increased. As 17-OHP did not increase upon ACTH (Synacthen) stimulation and the urinary steroid profile (USP) was compatible with an ovarian source of 17-OHP excess rather than adrenal, non classical congenital adrenal hyperplasia (NCCAH) was unlikely and an androgen-secreting tumor was suspected. Transabdominal ultrasound revealed the presence of an enlarged right ovary with a polycystic ovary morphology and no discrete mass. Transvaginal ultrasound and [18F]− fluorodeoxyglucose positron emission tomography–computed tomography (FDG PET–CT) enabled the localization of a right ovarian tumor. Laparoscopic right salpingo-oophorectomy was performed and a histological diagnosis of steroid cell tumor, not otherwise specified (SCT–NOS) was made. Hyperandrogenism and menstrual disturbances resolved postoperatively. A literature review revealed that 17-OHP-secreting SCT–NOS may uncommonly show positive responses to ACTH stimulation similar to 21-hydroxylase deficiency. Alternatively, USP might be useful in localizing the source of 17-OHP to the ovaries. Its diagnostic performance should be evaluated in further studies.
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Keevil, Brian, Kyriakie Sarafoglou, David Moriarty, Michael Huang, Chris Barnes, and Wiebke Arlt. "Assessment of Steroid Hormones in Both Saliva and Blood During a Phase 2 Clinical Trial for the Use of Tildacerfont in Adults With Classic Congenital Adrenal Hyperplasia." Journal of the Endocrine Society 5, Supplement_1 (May 1, 2021): A1012. http://dx.doi.org/10.1210/jendso/bvab048.2070.
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Abstract Background: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is an autosomal recessive disorder characterized by an inability to synthesize endogenous cortisol resulting in overproduction of 17-hydroxyprogesterone (17-OHP) and androgens such as androstenedione (A4). Serum-based methods to measure steroid hormones typically require clinic visits and are not amenable to frequent, serial measurements when patient daily glucocorticoid doses are adjusted. Reliable, non-invasive new methodologies that can easily be adopted in a clinical trial setting are needed to complement existing measures of disease control. Here we report on the correlation between salivary and serum steroid hormone data from a Phase 2 proof-of-concept study for tildacerfont, a second generation corticotropin-releasing factor-1 (CRF1) receptor antagonist, which previously showed an ability to reduce excess adrenocorticotropic hormone (ACTH), 17-OHP, and A4 concentrations. Methods: Subjects with CAH under evaluation for tildacerfont underwent concurrent salivary and serum concentration measurements of androstenedione (A4), 17-hydroxyprogesterone (17-OHP) and testosterone (T) at approximately 8 am every 2 weeks for up to 6 weeks. Both serum and saliva samples were measured using liquid chromatography-tandem mass spectrometry. Results: 25 subjects (16 females) with a median age of 31 years (range 19-67) participated; median body mass index (BMI) was 27.8 kg/m2 (22-62 kg/m2). The number of matched samples across time points were: n=106 (17-OHP), n=106 (A4) and n=98 (T). 17-OHP and A4 were well correlated between serum and salivary assessments, r=0.80 (p<0.001) and r=0.80 (p<0.001), respectively, using kendall rank tests. T measurements had a lower correlation, r=0.67 (p<0.001). Over the duration of treatment, correlations between saliva and serum for 17-OHP and A4 were generally stable with only small differences across sex and clinic visit. Correlations between saliva and serum for T showed a moderate degree variability in women and a high degree of variability in men across visits. While correlations were high for A4 and 17-OHP, the magnitude of change, as a percentage of baseline across time points, was less pronounced with saliva as compared to serum. Conclusions: The ability to employ salivary steroid hormone measurements in CAH patients was demonstrated in a clinical trial setting. These data show that the measurement of the hormones 17-OHP and A4 in saliva may offer a promising, non-invasive approach to more frequently assessing response to therapy in patients with CAH.
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McCartney, Christopher R., Amy B. Bellows, Melissa B. Gingrich, Yun Hu, William S. Evans, John C. Marshall, and Johannes D. Veldhuis. "Exaggerated 17-hydroxyprogesterone response to intravenous infusions of recombinant human LH in women with polycystic ovary syndrome." American Journal of Physiology-Endocrinology and Metabolism 286, no. 6 (June 2004): E902—E908. http://dx.doi.org/10.1152/ajpendo.00415.2003.
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Studies using pharmacological gonadotropin stimulation suggest that ovarian steroidogenesis is abnormal in the polycystic ovary syndrome (PCOS). We assessed ovarian steroid secretion in response to near-physiological gonadotropin stimuli in 12 ovulatory controls and 7 women with PCOS. A gonadotropin-releasing hormone-receptor antagonist (ganirelix, 2 mg sc) was given to block endogenous LH secretion, followed by dexamethasone (0.75 mg orally) to suppress adrenal androgen secretion. After ganirelix injection (12 h), intravenous infusions of recombinant human LH (0, 10, 30, 100, and 300 IU; each over 8 min) were administered at 4-h intervals in a pseudorandomized (highest dose last) manner. Plasma LH, 17-hydroxyprogesterone (17-OHP), androstenedione, and testosterone were measured concurrently. LH dose-steroid response relationships (mean sex-steroid concentration vs. mean LH concentration over 4 h postinfusion) were examined for each subject. Linear regression of 17-OHP on LH yielded a higher (mean ± SE) slope in PCOS (0.028 ± 0.010 vs. 0.005 ± 0.005, P < 0.05), whereas extrapolated 17-OHP at zero LH was similar. The slopes of other regressions did not differ from zero in either PCOS or controls. We conclude that near-physiological LH stimulation drives heightened 17-OHP secretion in patients with PCOS, suggesting abnormalities of early steps of ovarian steroidogenesis. With the exception of 17-OHP response in PCOS, no acute LH dose-ovarian steroid responses were observed in controls or PCOS. Defining the precise mechanistic basis of heightened precursor responsiveness to LH in PCOS will require further clinical investigation.
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Soardi, Fernanda Caroline, Sofia Helena V. Lemos-Marini, Fernanda Borchers Coeli, Víctor Gonçalves Maturana, Márcia Duarte Barbosa da Silva, Renan Darin Bernardi, Giselle Zenker Justo, and Maricilda Palandi de-Mello. "Heterozygosis for CYP21A2 mutation considered as 21-hydroxylase deficiency in neonatal screening." Arquivos Brasileiros de Endocrinologia & Metabologia 52, no. 8 (November 2008): 1388–92. http://dx.doi.org/10.1590/s0004-27302008000800030.
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Steroid 21-hydroxylase deficiency (21-OHD) accounts for more than 90% of congenital adrenal hyperplasia. CAH newborn screening, in general, is based on 17-hydroxyprogesterone dosage (17-OHP), however it is complicated by the fact that healthy preterm infants have high levels of 17-OHP resulting in false positive cases. We report on molecular features of a boy born pre-term (GA = 30 weeks; weight = 1,390 g) with elevated levels of 17-OHP (91.2 nmol/L, normal < 40) upon neonatal screening who was treated as having CAH up to the age of 8 months. He was brought to us for molecular diagnosis. Medication was gradually suspended and serum 17-OHP dosages mantained normal. The p.V281L mutation was found in compound heterozygous status with a group of nucleotide alterations located at the 3' end intron 4 and 5' end exon 5 corresponding to the splice site acceptor region. Molecular studies continued in order to exclude the possibility of a nonclassical 21-OHD form. The group of three nucleotide changes was demonstrated to be a normal variant since they failed to interfere with the normal splicing process upon minigene studies.
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El-Maouche, Diala, Deborah P. Merke, Maria G. Vogiatzi, Alice Y. Chang, Adina F. Turcu, Elizabeth G. Joyal, Vivian H. Lin, et al. "A Phase 2, Multicenter Study of Nevanimibe for the Treatment of Congenital Adrenal Hyperplasia." Journal of Clinical Endocrinology & Metabolism 105, no. 8 (June 26, 2020): 2771–78. http://dx.doi.org/10.1210/clinem/dgaa381.
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Abstract Context Patients with classic congenital adrenal hyperplasia (CAH) often require supraphysiologic glucocorticoid doses to suppress adrenocorticotropic hormone (ACTH) and control androgen excess. Nevanimibe hydrochloride (ATR-101), which selectively inhibits adrenal cortex function, might reduce androgen excess independent of ACTH and thus allow for lower glucocorticoid dosing in CAH. 17-hydroxyprogesterone (17-OHP) and androstenedione are CAH biomarkers used to monitor androgen excess. Objective Evaluate the efficacy and safety of nevanimibe in subjects with uncontrolled classic CAH. Design This was a multicenter, single-blind, dose-titration study. CAH subjects with baseline 17-OHP ≥4× the upper limit of normal (ULN) received the lowest dose of nevanimibe for 2 weeks followed by a single-blind 2-week placebo washout. Nevanimibe was gradually titrated up if the primary outcome measure (17-OHP ≤2× ULN) was not met. A total of 5 nevanimibe dose levels were possible (125, 250, 500, 750, 1000 mg twice daily). Results The study enrolled 10 adults: 9 completed the study, and 1 discontinued early due to a related serious adverse event. At baseline, the mean age was 30.3 ± 13.8 years, and the maintenance glucocorticoid dose, expressed as hydrocortisone equivalents, was 24.7 ± 10.4 mg/day. Two subjects met the primary endpoint, and 5 others experienced 17-OHP decreases ranging from 27% to 72% during nevanimibe treatment. The most common side effects were gastrointestinal (30%). There were no dose-related trends in adverse events. Conclusions Nevanimibe decreased 17-OHP levels within 2 weeks of treatment. Larger studies of longer duration are needed to further evaluate its efficacy as add-on therapy for CAH.
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Ghizzoni, Lucia, Marco Cappa, Alessandra Vottero, Graziamaria Ubertini, Daniela Carta, Natascia Di Iorgi, Valentina Gasco, et al. "Relationship of CYP21A2 genotype and serum 17-hydroxyprogesterone and cortisol levels in a large cohort of Italian children with premature pubarche." European Journal of Endocrinology 165, no. 2 (August 2011): 307–14. http://dx.doi.org/10.1530/eje-11-0119.
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ObjectivePremature pubarche (PP) is the most frequent sign of nonclassic congenital adrenal hyperplasia (NCCAH) due to 21-hydroxylase deficiency in childhood. The aim of this study was to assess the relationship between the CYP21A2 genotype and baseline and ACTH-stimulated 17-hydroxyprogesterone (17-OHP) and cortisol serum levels in patients presenting with PP.Patients and methodsA total of 152 Italian children with PP were studied. Baseline and ACTH-stimulated 17-OHP and cortisol serum levels were measured and CYP21A2 gene was genotyped in all subjects.ResultsBaseline and ACTH-stimulated serum 17-OHP levels were significantly higher in NCCAH patients than in both heterozygotes and children with idiopathic PP (IPP). Of the patient population, four NCCAH patients (7.3%) exhibited baseline 17-OHP values <2 ng/ml (6 nmol/l). An ACTH-stimulated 17-OHP cutoff level of 14 ng/ml (42 nmol/l) identified by the receiver-operating characteristics curves showed the best sensitivity (90.9%) and specificity (100%) in distinguishing NCCAH patients. This value, while correctly identifying all unaffected children, missed 9% of affected individuals. Cortisol response to ACTH stimulation was <18.2 μg/dl (500 nmol/l) in 14 NCCAH patients (28%) and none of the heterozygotes or IPP children. Among the 55 NCCAH patients, 54.5% were homozygous for mild CYP21A2 mutations, 41.8% were compound heterozygotes for one mild and one severe CYP21A2 gene mutations, and 3.6% had two severe CYP21A2 gene mutations.ConclusionIn children with PP, baseline 17-OHP levels are not useful to rule out the diagnosis of NCCAH, which is accomplished by means of ACTH testing only. The different percentages of severe and mild CYP21A2 gene mutations found in PP children compared with adult NCCAH patients is an indirect evidence that the enzyme defect is under-diagnosed in childhood, and it might not lead to the development of hyperandrogenic symptoms in adulthood. Stress-dose glucocorticoids should be considered in patients with suboptimal cortisol response to ACTH stimulation.
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Liu, Jian, Xuemei Qiu, Daoming Wang, Yantao Li, Yang Zong, Yichen Liu, Yue Zhang, et al. "Quantification of 10 steroid hormones in human saliva from Chinese adult volunteers." Journal of International Medical Research 46, no. 4 (February 22, 2018): 1414–27. http://dx.doi.org/10.1177/0300060517752733.
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Objective This study was performed to investigate the effects of age and sex on 10 salivary steroid hormones and analyze the correlations between salivary and plasma hormones. Methods The concentrations of 10 salivary steroid hormones in 1090 Chinese adult volunteers were examined using liquid chromatography–tandem mass spectrometry, and a related investigation was performed on the concentrations of salivary hormones in this population. Results The concentrations of androstenedione (A4), 17α-hydroxyprogesterone (17-OHP), aldosterone (ALD), cortisone (COR), corticosterone (CORT), cortisol (F), progesterone (P), and testosterone were significantly different between men and women (Student’s t-test). Differences in 17-OHP and ALD concentrations were highly significant between women in the follicular and luteal phases of their menstrual cycle (Student’s t-test). Five salivary steroid hormones (17-OHP, A4, CORT, COR, and F) significantly decreased with increasing age (Kruskal–Wallis test). A high linear correlation between salivary and plasma 17-OHP, P, A4, and F were observed with obvious sex-related differences (Pearson’s correlation, r > 0.7). Conclusions Our results provide important knowledge regarding the descriptive characteristics of salivary hormones in relation to age and sex and their correlations with plasma hormones.
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Jiang, Xiang, Fang Tang, Yi Feng, Bei Li, Xuefang Jia, Chengfang Tang, Sichi Liu, and Yonglan Huang. "The adjustment of 17-hydroxyprogesterone cut-off values for congenital adrenal hyperplasia neonatal screening by GSP according to gestational age and age at sampling." Journal of Pediatric Endocrinology and Metabolism 32, no. 11 (November 26, 2019): 1253–58. http://dx.doi.org/10.1515/jpem-2019-0140.
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Abstract Background Congenital adrenal hyperplasia (CAH) screening is facing great challenges because of a high false-positive rate and a low positive predictive value (PPV). We established and optimized 17-hydroxyprogesterone (17-OHP) cut-off values for CAH neonatal screening using a genetic screening processor (GSP) according to gestational age (GA), birth weight (BW) and age at sampling. Methods The 17-OHP concentrations in dried blood spots were measured by time-resolved immunofluorescence and were grouped in terms of GA, BW and age at sampling for 48,592 newborns. The 99.5th percentile was used to set an initial cut-off value as a reference. Results Significant differences in 17-OHP concentrations were observed among newborns with different GAs and BWs. A significant difference was observed among different sampling age groups. Finally, we defined new multitier cut-off concentrations based on GA and age at sampling. Application of the new cut-off values resulted in a 30% reduction of the positive rate and a 40% increase of the PPV. Conclusions GA, BW and sampling age time influenced the concentrations of 17-OHP. The efficiency of congenital adrenal hyperplasia screening can be substantially improved by adjusting the multitier cut-off value according to GA and age at sampling.
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Xu, Y. Y., K. Pettersson, K. Blomberg, I. Hemmilä, H. Mikola, and T. Lövgren. "Simultaneous Quadruple-Label Fluorometric Immunoassay of Thyroid-Stimulating Hormone, 17 α-Hydroxyprogesterone, Immunoreactive Trypsin, and Creatine Kinase MM Isoenzyme in Dried Blood Spots." Clinical Chemistry 38, no. 10 (October 1, 1992): 2038–43. http://dx.doi.org/10.1093/clinchem/38.10.2038.
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Abstract We describe a quadruple-label fluorometric immunoassay for simultaneously measuring four analytes: thyroid-stimulating hormone (TSH), 17 alpha-hydroxyprogesterone (17 alpha-OHP), immunoreactive trypsin (IRT), and creatine kinase MM (CK-MM). The assay is based on immunoreagents labeled with four different lanthanide ions (Eu3+, Tb3+, Sm3+, and Dy3+), on dissociative fluorescence enhancement applying the principle of co-fluorescence, and on time-resolved fluorometry. The monoclonal anti-alpha-TSH and anti-IRT antibodies and the polyclonal anti-CK-MM antibody were labeled with Eu3+, Sm3+, and Dy3+, respectively; 17 alpha-OHP was labeled with Tb3+. The assay was performed in microtitration strip wells coated with a mixture of monoclonal antibodies against beta-TSH, IRT, and CK-MM and a polyclonal goat anti-rabbit IgG for capture of the rabbit anti-17 alpha-OHP antibodies. After completion of the immunoreactions, the bound fractions of the lanthanides were dissociated into the co-fluorescence enhancement solution, creating highly fluorescent chelates. The four lanthanide-specific signals were subsequently measured in a time-resolved fluorometer. The detection limits of the assay were 0.1 mIU/L for TSH, 2 nmol/L for 17 alpha-OHP, 2 micrograms/L for IRT, and 4 U/L for CK-MM.
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Can, Esra, and Oluş Api. "Evaluation of fetal stress in preeclamptic patients." Perinatal Journal 28, no. 1 (April 1, 2020): 7–10. http://dx.doi.org/10.2399/prn.20.0281002.
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Objective Previous studies have established the association between preeclampsia (PE)-induced stress on fetus and elevated 17-hydroxyprogesterone levels (17-OHP) of which known as a stress markers. The aim of our study was to evaluate the relationship between these markers that were analyzed via cord blood with the severity of PE. Methods Consecutive PE women who were admitted to Dr. Lütfi Kırdar Training and Research Hospital Obstetrics and Gynecology Clinics from August 2009 to December 2009 were recruited. Uncomplicated pregnant women admitted at the same period consisted the control group. Umbilical blood samples were collected from umbilical artery immediately after birth and 17-OHP analyzed. Results The study group consisted of 40 mild PE (n=12) and severe PE patients (n=28) and the control group consisted of 35 patients. Maternal age and body mass index were similar between the study groups, but the fetuses in the severe PE group had a smaller mean gestational age and mean birth weight (p=0.001). Umbilical cord 17-OHP levels were statistically significantly lower in the severe PE patients than the controls [Control group=12.5±4.6 (n=35); mild PE=10.3±6 (n=12, p=0.24), severe PE=9.6±5.2 (n=28, p=0.019)]. Although the patients with mild PE had lower 17-OHP levels, they were not statistically significant (p=0.827). Conclusion In our study, it is found that there is no association between PE severity and the cord blood levels of 17-OHP. The effect of early intervention that prevent feto-maternal complications may lead to normal or low levels of these markers of which was found increased in cord blood of preeclamptic patients in previous studies.
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Castro, Patrícia S., Tatiana O. Rassi, Raquel F. Araujo, Isabela L. Pezzuti, Andresa S. Rodrigues, Tania A. S. S. Bachega, and Ivani N. Silva. "High frequency of non-classical congenital adrenal hyperplasia form among children with persistently elevated levels of 17-hydroxyprogesterone after newborn screening." Journal of Pediatric Endocrinology and Metabolism 32, no. 5 (May 27, 2019): 499–504. http://dx.doi.org/10.1515/jpem-2018-0398.
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Abstract Background Early diagnosis after newborn screening (NBS) for congenital adrenal hyperplasia (CAH) allows proper treatment, reducing mortality rates and preventing development of hyperandrogenic manifestations and incorrect sex assignment at birth. Despite the high NBS sensitivity to detect CAH classical forms, one of the main issues is identifying asymptomatic children who remained with increased 17-hydroxyprogesterone (17-OHP) levels. In this study, we aimed to contribute to understanding the diagnosis of these children. Methods Children with increased serum 17-OHP levels, and without disease-related clinical features during follow-up, underwent the entire CYP21A2 gene sequencing and multiplex ligation-dependent probe amplification (MLPA) analysis (SALSA MLPA P050B CAH). Patients’ genotypes were subsequently sorted as compatible with CAH disease, and children were evaluated to determine the clinical status. Results During the study period, 106,476 newborns underwent CAH NBS. During follow-up, 328 children (0.3%) were identified as having false-positive tests and 295 were discharged after presenting with 17-OHP levels within reference values. Thirty-three remained asymptomatic and with increased serum 17-OHP levels after a mean follow-up of 3.4 years, and were subjected to molecular analysis. Seventeen out of the 33 children carried mutations: seven in the heterozygous state, nine carried non-classical genotypes and the remaining child carried a classical genotype. Conclusions We found a high frequency of non-classical CAH (NCCAH) diagnosis among children with persistent elevation of 17-OHP levels. Our findings support molecular study as decisive for elucidating diagnosis in these asymptomatic children. Molecular analysis as a confirmatory test is relevant to guide their follow-up, allows genetic counseling and avoids over treating NCCAH form.
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Reinehr, Thomas, Juliane Rothermel, Andreas Wegener-Panzer, Michaela F. Hartmann, Stefan A. Wudy, and Paul-Martin Holterhus. "Vanishing 17-Hydroxyprogesterone Concentrations in 21-Hydroxylase Deficiency." Hormone Research in Paediatrics 90, no. 2 (2018): 138–44. http://dx.doi.org/10.1159/000487927.
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We present a boy with a genetically proven congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. While massively elevated 17-hydroxyprogesterone (17-OHP) concentrations after birth led to the diagnosis, 17-OHP concentrations became immeasurable starting with the second year of life even though the dose of hydrocortisone was continuously decreased to ∼7 mg/m2/day. Furthermore, 17-OHP levels were immeasurable during the ACTH test and after withdrawing hydrocortisone medication. In contrast, ACTH levels increased after cessation of hydrocortisone treatment suggesting complete primary adrenal cortex failure. We discuss this case based on the differential diagnosis of complete adrenal cortex failure including other genetic causes in addition to CAH, prednisolone treatment, autoimmune adrenalitis, adrenoleukodystrophy, CMV infection, and adrenal hemorrhage infarction. The most likely disease in our boy is autoimmune adrenalitis, which is difficult to prove years after the onset of the disease. Treatment of CAH had masked the classical symptoms of complete adrenal cortex insufficiency leading to delayed diagnosis in this case.
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Crain, Courtney, Kathryn Stambough, Lefkothea Karaviti, and Oluyemisi Adeyemi-Fowode. "28. Elevated 17-Hydroxyprogesterone (17-OHP) in Ovarian Sertoli-Leydig Cell Tumor." Journal of Pediatric and Adolescent Gynecology 34, no. 2 (April 2021): 250. http://dx.doi.org/10.1016/j.jpag.2021.02.032.
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Ibáñez, Lourdes, Neus Potau, Maria Victoria Marcos, and Francis de Zegher. "Corticotropin-Releasing Hormone: A Potent Androgen Secretagogue in Girls with Hyperandrogenism after Precocious Pubarche1." Journal of Clinical Endocrinology & Metabolism 84, no. 12 (December 1, 1999): 4602–6. http://dx.doi.org/10.1210/jcem.84.12.6239.
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CRH is an adrenal androgen secretagogue in men and has been proposed as a candidate regulator of adrenarche. CRH also affects androgen production by theca cells and may be involved in the pathogenesis of ovarian hyperandrogenism (OH). Precocious pubarche (PP) in girls can precede adolescent OH, a condition characterized by a high ovarian 17-hydroxyprogesterone (17-OHP) response 24 h after GnRH agonist challenge. In adolescent girls with a history of PP, we assessed the early androgen response to CRH, as well as the CRH effect on the late ovarian response to GnRH agonist. Within a randomized cross-over design, saline or CRH (human CRH 1μ g/kg·h in saline) was infused over 3-h (1100–1400 h) into 12 adolescent girls (age 17 ± 2 yr; body mass index 21.4 ± 0.9 Kg/m2) who had been pretreated with dexamethasone (1 mg at 0 h) and GnRH agonist (leuprolide acetate 500 μg sc at 0800 h = time 0). All adolescents had hirsutism, irregular menses, hyperandrogenemia, and hyperinsulinemia after PP. Serum LH, FSH, androstenedione, dehydroepiandrosterone (DHEA), and DHEA-sulfate (DHEAS) were measured at time 0, 3, 6, and 24 h, and ACTH and 17-OHP were measured at time 0, 6, and 24 h. ACTH concentrations at the end of saline or CRH infusions were less than 45 pg/mL; neither saline nor CRH infusions evoked early changes in 17-OHP levels. Within 3 h of CRH infusion, DHEAS increased by 46%, on average; androstenedione increased 2.5-fold and DHEA increased 5-fold during CRH infusion (all P < 0.0001 compared with saline). There was no detectable CRH effect on the responses of LH, FSH, DHEA, DHEAS, 17-OHP, androstenedione, testosterone, and estradiol 24 h after GnRH agonist administration; five of 12 girls had elevated 17-OHP responses suggestive of OH. In conclusion, CRH was found to be a potent adrenal androgen secretagogue in adolescent girls with hyperandrogenism after PP. In this study, CRH failed to detectably affect the ovarian androgen response to gonadotropins.
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Hatun, Sükrü, Nurşen Yordam, and Ali Süha Çalikoǧlu. "Serum 3α-androstanediol glucuronide measurements in children with congenital adrenal hyperplasia." European Journal of Endocrinology 131, no. 5 (November 1994): 504–8. http://dx.doi.org/10.1530/eje.0.1310504.
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Hatun Ş, Yordam N, Çalikoǧlu AS. Serum 3α-androstandiol glucuronide measurements in children with congenital adrenal hyperplasia. Eur J Endocrinol 1994;131:504–8. ISSN 0804–4643 To determine the value of 3α-androstanediol glucuronide (3-AG) measurements in children with congenital adrenal hyperplasia, we compared serum 3AG, 17-hydroxyprogesterone (17-OHP), androstenedione (A), testosterone (T) and dihydrotestosterone (DHT) levels and 24-h urinary 17-ketosteroid (17-KS) excretion in 42 female children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency, including 27 with the simple virilizing and 15 with the salt-losing form. Their mean age was 74.5 ±48.5 months (range, 6–194 months). Twenty-four-hour urinary 17-KS excretion and serum 3-AG, A, T, DHT and 17-OHP levels were measured in the patients. The values were less than the mean + 2 sd of the control group in 63%, 74%, 67%, 69%, 60% and 31% of the patients, respectively. Serum 3-AG levels correlated with 24-h urinary 17-KS excretion (r = 0.66) and plasma A (r = 0.80), 17-OHP (r = 0.56), T (r = 0.79) and DHT (r = 0.62) levels. We conclude that serum 3-AG is a useful metabolic index in the management of children with congenital adrenal hyperplasia. Şükrü Hatun, Türk-İş Blk, 274/7, Aydinlikevler, Ankara, Turkey
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Clausen, Caroline S., Marie L. Ljubicic, Katharina M. Main, Anna-Maria Andersson, Jørgen H. Petersen, Hanne Frederiksen, Morten Duno, Trine H. Johannsen, and Anders Juul. "Congenital Adrenal Hyperplasia in Children: A Pilot Study of Steroid Hormones Expressed as Sex- and Age-Related Standard Deviation Scores." Hormone Research in Paediatrics 93, no. 4 (2020): 226–38. http://dx.doi.org/10.1159/000509079.
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<b><i>Introduction:</i></b> Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease predominantly caused by 21-hydroxylase deficiency. Clinical management in children includes glucocorticoid and often mineralocorticoid treatment alongside monitoring outcomes such as anthropometry, pubertal status, blood pressure, and biochemistry. <b><i>Objective:</i></b> The objective of this pilot study was to present the use of 17-hydroxyprogesterone (17-OHP) and androgen metabolites expressed as standard deviation (SD) scores rather than actual concentrations as a tool in the management of children with CAH as well as in research settings. <b><i>Methods:</i></b> The study was a retrospective, longitudinal study that took place in a single, tertiary center and included 38 children and adolescents aged 3–18 years with CAH due to 21-hydroxylase deficiency. Biochemical measurements of 17-OHP, androstenedione, dehydroepiandrosterone-sulphate (DHEAS), and testosterone using liquid chromatography-tandem mass spectrometry were expressed as SD scores, and outcomes such as genotype, height, bone maturation, blood pressure, and treatment doses were extracted from patient files. <b><i>Results:</i></b> The majority (86%) of CAH patients had 17-OHP measurements above +2 SD during standard hydrocortisone therapy, receiving an average daily hydrocortisone dose of 12.6 mg/m<sup>2</sup>. Androstenedione concentrations were mostly within ±2 SD, whereas DHEAS values were below –2 SD in 47% of patients. <b><i>Conclusions:</i></b> Applying sex- and age-related SD scores to 17-OHP and androgen metabolite concentrations allows for monitoring of hydrocortisone treatment independent of age, sex, assay, and center. We propose that 17-OHP and androgen metabolites expressed as SD scores be implemented as a unifying tool that simplifies research and, in the future, also optimal management of treatment.
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Heather, Natasha L., and Anna Nordenstrom. "Newborn Screening for CAH—Challenges and Opportunities." International Journal of Neonatal Screening 7, no. 1 (February 13, 2021): 11. http://dx.doi.org/10.3390/ijns7010011.
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Saito, M., T. Yoshino, Y. Kawamoto, H. Bando, Y. Arimura, N. Fuse, M. Tahara, T. Doi, and A. Ohtsu. "Association of hypersensitivity reactions to oxaliplatin with cumulative dose of oxaliplatin." Journal of Clinical Oncology 29, no. 4_suppl (February 1, 2011): 584. http://dx.doi.org/10.1200/jco.2011.29.4_suppl.584.
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584 Background: The incidence of hypersensitivity reactions (HSRs) to oxaliplatin (L-OHP) in colorectal cancer patients (CRC) receiving the 5-fluorouracil/leucovorin plus L-OHP (FOLFOX) regimen is reported to be 10 to 17%. There are several reports of clinical features of HSRs to L-OHP, but the relationship between HSRs and the cumulative dose of L-OHP has not been clarified. Methods: From August 2005 to July 2009, a total of 54 CRC patients who developed HSRs during treatment with mFOLFOX6 or mFOLFOX6 plus bevacizumab regimen as first-line treatment, were reviewed retrospectively. Within this patient group, sixteen patients had an L-OHP-free interval of at least three months or more. We investigated the clinical features of HSRs associated with L-OHP in our institution, and evaluated the degree to which its occurrence is dependent upon the cumulative dose of L-OHP in patients who had an interruption of L-OHP. Results: Within the sample of 54 patients, HSRs occurred after a median treatment course number of 8 (range 2-19), and the median cumulative dose of L-OHP being 700 mg/m2 (range 170-1615). In these subjects, grade1/2/3 HSRs developed in 33/20/1 patients, respectively. Re-challenge of L-OHP combined with prophylactic agents was performed in 42 patients (78%). There were 16 patients who had an L-OHP- free interval, in whom the major reason for L-OHP withdrawal was neurotoxicity, with reintroduction because of tumor progression or recurrence. Of these 16 patients, 10 developed the first HSRs after reintroduction of L-OHP. Among these 10 patients, grade1/2/3 HSRs developed in 6/3/1 patients, respectively, and occurred at a median course number of 2.5 following re-infusion of L-OHP, or 12 treatments after the initial infusion. The median cumulative dose of L-OHP at HSRs in this patient group was 213 mg/m2 after the re-introduced infusion, and a total of 1088 mg/m2 since initial onset of treatment. Conclusions: Our results suggest that the development of HSRs during L-OHP treatment depends on the cumulative dose from the initial administration even in patients who experienced an L-OHP-free interval. No significant financial relationships to disclose.
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Thao Hoang, Phuong, Tsay Eric, John Mace, and Eba Hathout. "Congenital Adrenocortical Tumor in an Asymptomatic Neonate with Positive Newborn Screen for Congenital Adrenal Hyperplasia: A Case Report." International Journal of Integrative Pediatrics and Environmental Medicine 3 (February 14, 2017): 1–4. http://dx.doi.org/10.36013/ijipem.v3i0.30.
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Adrenocortical tumors (ACTs) are rare in childhood, particularly in the neonatal period. ACTs in children usually secrete hormones that can cause virilization, precocious puberty, or Cushing syndrome. However, in many cases the diagnosis is delayed because of the generally healthy appearance of the child and the lack of a palpable abdominal mass. ACTs can also be misdiagnosed as congenital adrenal hyperplasia (CAH) especially if 17-hydroxyprogesterone (17-OHP) is elevated. We describe a case of neonatal ACT diagnosed in an asymptomatic newborn with positive/elevated 17-OHP on newborn screening. On examination there were no signs of virilization, Cushing syndrome, hemihypertrophy, or hypertension, and there was no palpable abdominal mass. While awaiting confirmatory results of an elevated 17-OHP level, an abnormally low adrenocorticotropic hormone level was noted. Abdominal ultrasound, obtained to evaluate the adrenal glands, showed a right adrenal mass with peripheral calcification. MRI revealed a 3.6 x 3.5 x 3.4 cm heterogeneously enhancing ovoid mass in the right adrenal gland. Diagnosis of an ACT was also confirmed by laboratory data, and histopathology of the tumor. Surgical resection was safely performed with perioperative steroid replacement. Genetic analysis of CYP21A2 and CYP11B1 genes was negative. A germ-line point mutation in the TP53 region was discovered, suggesting Li-Fraumeni syndrome. ACTs should be considered in the differential diagnosis of neonates with elevated 17-OHP detected by newborn screening for CAH. Adrenal ultrasound is recommended in cases of significantly abnormal CAH screen results to rule out or treat adrenal neoplasms.
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Janzen, N., M. Peter, S. Sander, U. Steuerwald, M. Terhardt, U. Holtkamp, and J. Sander. "Newborn Screening for Congenital Adrenal Hyperplasia: Additional Steroid Profile using Liquid Chromatography-Tandem Mass Spectrometry." Journal of Clinical Endocrinology & Metabolism 92, no. 7 (July 1, 2007): 2581–89. http://dx.doi.org/10.1210/jc.2006-2890.
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Abstract Background: Neonatal screening programs for congenital adrenal hyperplasia (21-CAH) using an immunoassay for 17α-hydroxyprogesterone (17-OHP) generate a high rate of positive results attributable to physiological reasons and to cross-reactions with steroids other than 17α-OHP, especially in preterm neonates and in critically ill newborns. Methods: To increase the specificity of the screening process, we applied a liquid chromatography-tandem mass spectrometry method quantifying 17α-OHP, 11-deoxycortisol, 21-deoxycortisol, cortisol, and androstenedione. The steroids were eluted in aqueous solution containing d8-17α-OHP and d2-cortisol and quantified in multiple reaction mode. Results: Detection limit was below 1 nmol/liter, and recovery ranged from 64% (androstenedione) to 83% (cortisol). Linearity was proven within a range of 5–100 nmol/liter (cortisol, 12.5–200 nmol/liter), and total run time was 6 min. Retrospective analysis of 6151 blood samples and 50 blood samples from newborns with clinically confirmed 21-CAH, as well as prospective analysis of 1609 samples of a total of 242,500 testing positive in our routine 17-OHP immunoassay, allowed clear distinction of affected and nonaffected newborns. High levels of 21-deoxycortisol were only found in children with 21-hydroxylase deficiency. Calculating the ratio of 17α-OHP to 21-deoxycortisol divided by cortisol further increased the sensitivity of the method. Conclusion: Our liquid chromatography-tandem mass spectrometry procedure as a second-tier test can be used to reduce false-positive results of standard 21-CAH screening. The short total run time of 6 min allows for immediate reanalysis of all immunoassay results above the cutoff.
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Makela, S. K., and G. Ellis. "Nonspecificity of a direct 17 alpha-hydroxyprogesterone radioimmunoassay kit when used with samples from neonates." Clinical Chemistry 34, no. 10 (October 1, 1988): 2070–75. http://dx.doi.org/10.1093/clinchem/34.10.2070.
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Abstract We analyzed 240 samples for 17 alpha-hydroxyprogesterone (17-OHP) with the direct-assay kit ("Coat-A-Count" method for serum samples) from Diagnostic Products Corp. (DPC). The specimens were from 50 patients with known or suspected congenital adrenal hyperplasia (CAH); 74 mostly hospitalized neonates and infants, ages three days to three months; and 116 other patients, ages six months to 23 years. Samples from the CAH group were also analyzed with our in-house assay. For 39 of the neonatal samples, the analysis with the DPC assay was repeated with re-solubilized material that had been extracted from the serum with organic solvents. Values for "17-OHP" measured with the DPC direct assay were high, not only in CAH patients, but also in many of the unaffected neonates and infants. The extraction properties of the cross-reacting immunoreactive material into various organic solvent systems were different from those of 17-OHP, and were more like those of steroid sulfates. Because of this significant cross-reactivity, we recommend that the DPC kit not be used for sera from children younger than six months of age, unless the method is modified to include an extraction step.
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Ramos, Clarissa Cerchi A., Lucas Ricci Bento, Ezequiel Moreira Gonçalves, Maricilda Palandi de Mello, Maria Tereza M. Baptista, Sofia Helena V. de Lemos-Marini, and Gil Guerra-Júnior. "Avaliação do crescimento, do controle laboratorial e da corticoterapia em um grupo de pacientes com a forma clássica da deficiência da 21-hidroxilase." Revista Paulista de Pediatria 25, no. 4 (December 2007): 317–23. http://dx.doi.org/10.1590/s0103-05822007000400004.
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OBJETIVO: Avaliar o padrão de crescimento de pacientes com hiperplasia adrenal congênita com a forma clássica da deficiência da 21-hidroxilase (21-OH), em relação ao controle hormonal e ao uso de corticóide no tratamento. MÉTODOS: Análise retrospectiva dos prontuários de 45 pacientes. Como padrão de crescimento, foi utilizado o ganho ou não de altura, avaliando-se a diferença entre o escore Z da estatura na última consulta (para idade óssea) em relação ao escore Z da estatura no início do tratamento (para a idade cronológica). Foram avaliadas todas as concentrações de 17-OH progesterona (17-OHP), androstenediona e renina, sendo considerados bem controlados os pacientes com 50% ou mais das dosagens normais. Em relação ao corticóide, foram analisados o tipo e a dose. RESULTADOS: A idade na última consulta variou de 2,8 a 26,6 anos (12,6+5,8 anos), sendo 31 do sexo feminino, 30 com a forma perdedora de sal; 62% foram considerados bem controlados para 17-OHP, 75% para androstenediona e 78% para renina. A hidrocortisona foi usada por 41 pacientes (20,2+2,6 mg/m²/dia) e, por 40, em associação com a 9a-fludrocortisona. Encontrou-se 14 pacientes com ganho, 20 com manutenção e 11 com perda estatural. Os pacientes perdedores de sal (p=0,01) e os bem controlados (p=0,0005) para 17-OHP e androstenediona apresentaram associação significativa com o ganho de estatura. CONCLUSÕES: Nesta amostra de pacientes com a forma clássica da deficiência da 21-OHD, o melhor crescimento apresentou associação com o bom controle laboratorial da 17-OHP e da androstenediona e com a forma perdedora de sal.
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Wallace, A. M., G. H. Beastall, B. Cook, A. J. Currie, A. M. Ross, R. Kennedy, and R. W. A. Girdwood. "Neonatal screening for congenital adrenal hyperplasia: a programme based on a novel direct radioimmunoassay for 17-hydroxyprogesterone in blood spots." Journal of Endocrinology 108, no. 2 (February 1986): 299–308. http://dx.doi.org/10.1677/joe.0.1080299.
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ABSTRACT We have assessed the feasibility of screening newborn babies for congenital adrenal hyperplasia (CAH) by the direct measurement of 17-hydroxyprogesterone (17-OHP) in blood spots collected on filter paper (Guthrie cards) for the phenylketonuria, hypothyroidism and galactosaemia screening programmes run in Scotland. The procedure described for CAH uses an iodinated 17-OHP tracer and a specific 17-OHP antiserum sheathed within semipermeable nylon microcapsules. The method does not require a solvent extraction step, is inexpensive, precise, efficient and, therefore, practical for large-scale use. With this system the value of a neonatal screening programme was assessed in a retrospective analysis and a prospective trial. The retrospective study of 15 paediatric cases of CAH illustrated that at least half were not diagnosed within 3 weeks of birth. Analysis of the original Guthrie card samples revealed increased levels of 17-OHP in all cases. The prevalence of CAH as calculated in the retrospective study was 1 in 20 907 with a range (within 95% confidence limits) of from 1 in 12 675 to 1 in 32 604 (n = 301 450). In the prospective trial a total of 92 051 consecutive samples was screened. Five cases of CAH were correctly identified with a current false positive rate of 0·042%. Analysis of urinary steroids confirmed defective adrenal 21-hydroxylase activity in all positive cases. In the prospective trial the prevalence was 1 in 18 401 with a range of from 1 in 7 422 to 1 in 50006. We conclude that mass screening for CAH is both feasible and desirable. J. Endocr. (1986) 108, 299–308
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Yusuf, Zenab I., Deepa Dongarwar, Rafeek A. Yusuf, and Hamisu M. Salihu. "Oral Health Problems among Children with Neurodevelopmental Disorders in the United States." International Journal of Maternal and Child Health and AIDS (IJMA) 9, no. 1 (February 10, 2020): 157–60. http://dx.doi.org/10.21106/ijma.342.
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Children with neurodevelopmental disabilities (NDD) suffer poor oral health problems (OHP) leading to adverse health outcomes. We examined the association between NDD and OHP among children in the United States (US) ages 3-17 years using data from the National Survey of Children’s Health (NSCH) 2016-17. The prevalence of OHP was 19.1%. Children with NDD had about 40% greater likelihood of poor oral health compared to their non-NDD counterparts (p <0.0001). Living at or above 200%-300% of the federal poverty level (FPL), private insurance coverage, and living with a least a college educated adult were found to be protective factors against poor oral health among children.
Key words: • Neurodevelopmental disorder • Oral health problems • Children • United States
Copyright © 2020 Yusuf et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
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Ekbom, K. "Pain and Stress Response during Intravenous Access in Children with Congenital Adrenal Hyperplasia: Effects of EMLA and Nitrous Oxide Treatment." Pain Research and Treatment 2017 (December 31, 2017): 1–7. http://dx.doi.org/10.1155/2017/1793241.
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Background. Congenital adrenal hyperplasia (CAH) is an endocrine condition that requires regularly blood samples for optimal treatment. The management of CAH in children is complex when intravenous access is one of the most stressful procedures for children. The purpose of this pilot study was to investigate the effects of nitrous oxide inhalation (N2O) in combination with cutaneous application of local anesthetics (EMLA) for improving intravenous access in children with CAH. Method. Ten children (7–14 years) were studied. The children received two intravenous procedures: one with EMLA and one with EMLA + N2O. The order of priority was randomized. The outcomes were the children’s pain experience (0–10) and an evaluation of satisfaction (1–5) after the procedure. Heart rate, blood pressure, saturation, and analyses of 17-hydroxyprogesterone (17-OHP), norepinephrine, and glucose were analyzed. Results. Higher pain scores, heart rate, and glucose levels were reported after EMLA, compared to EMLA + N2O, but 17-OHP levels remained unchanged. The children’s satisfaction with the intravenous procedure was more positive for EMLA + N2O. Conclusions. EMLA + N2O offers the possibility of improving the intravenous procedure for anxious children with CAH. Although the quality of care was better with N2O treatment, it was not possible to demonstrate that this is a prerequisite for valid 17-OHP measurements.
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Pott, Janne, Katrin Horn, Robert Zeidler, Holger Kirsten, Peter Ahnert, Jürgen Kratzsch, Markus Loeffler, Berend Isermann, Uta Ceglarek, and Markus Scholz. "Sex-Specific Causal Relations between Steroid Hormones and Obesity—A Mendelian Randomization Study." Metabolites 11, no. 11 (October 28, 2021): 738. http://dx.doi.org/10.3390/metabo11110738.
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Steroid hormones act as important regulators of physiological processes including gene expression. They provide possible mechanistic explanations of observed sex-dimorphisms in obesity and coronary artery disease (CAD). Here, we aim to unravel causal relationships between steroid hormones, obesity, and CAD in a sex-specific manner. In genome-wide meta-analyses of four steroid hormone levels and one hormone ratio, we identified 17 genome-wide significant loci of which 11 were novel. Among loci, seven were female-specific, four male-specific, and one was sex-related (stronger effects in females). As one of the loci was the human leukocyte antigen (HLA) region, we analyzed HLA allele counts and found four HLA subtypes linked to 17-OH-progesterone (17-OHP), including HLA-B*14*02. Using Mendelian randomization approaches with four additional hormones as exposure, we detected causal effects of dehydroepiandrosterone sulfate (DHEA-S) and 17-OHP on body mass index (BMI) and waist-to-hip ratio (WHR). The DHEA-S effect was stronger in males. Additionally, we observed the causal effects of testosterone, estradiol, and their ratio on WHR. By mediation analysis, we found a direct sex-unspecific effect of 17-OHP on CAD while the other four hormone effects on CAD were mediated by BMI or WHR. In conclusion, we identified the sex-specific causal networks of steroid hormones, obesity-related traits, and CAD.
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Kresch, Eliyahu, Daniel Gonzalez, Jesse Ory, Sirpi Nackeeran, Ruben Blachman-Braun, Manuel Molina, and Ranjith Ramasamy. "Impact of Short-Acting vs Long-Acting Testosterone Therapy on Intratesticular Testosterone Using Data From Two Open-Label Randomized Clinical Trials of Testosterone Pellets, Injections, and Intranasal Gel in Hypogonadal Men." Journal of the Endocrine Society 5, Supplement_1 (May 1, 2021): A758—A759. http://dx.doi.org/10.1210/jendso/bvab048.1543.
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Abstract Introduction & Objective: Exogenous testosterone (T) replacement therapy (TRT) is typically long-acting and can potentially cause infertility in a majority of men due to suppression of HPG axis. Intratesticular testosterone is vital for spermatogenesis and can be reliably evaluated with serum 17-hydroxyprogesterone (17-OHP). Based on this observation, we hypothesized that we used serum 17-OHP as a serum biomarker for evaluating intratesticular T in men receiving TRT. We hypothesized that long-acting TRT will have a significant impact on suppressing HPG axis as compared to short-acting preparations. We evaluated data from two simultaneous open-label, randomized, two-arm clinical trials amongst different treatment preparations (Trial I) subcutaneous T pellets and (Trial II) Intranasal Testosterone (Natesto) or Intramuscular Testosterone cypionate (TC). Subject & Methods: Hypogonadal men (2 AM serum T < 300 ng/dL assayed by LC-MS/MS) aged 18-65 years were randomized into open-label randomized clinical trials. Eligible subjects received: 800mg subcutaneous Testopel T pellets (n=47); or 11mg TID Intranasal testosterone (Natesto) (n=10) or 200mg x 2 weeks TC (n=10) for 2 months. Serum T and 17-OHP were collected at baseline and after 2 months of therapy. Data are presented as a post-hoc analysis of the two randomized clinical trials and reported as the median and interquartile range [25th-75th], paired sample analysis (baseline versus follow-up) was performed with the Wilcoxon test to determine change during time within the different TRT modalities, with p<0.05 considered significant. Results: Median change for serum T between baseline and 2mo follow-up to subcutaneous T pellets was 542 [454-757] ng/dL, Intranasal Testosterone 706 [517-1010] ng/dL, and TC 525 [280-712]ng/dL.; 96% of subjects in each trial achieved mean T concentrations in the eugonadal range. We demonstrated that serum T levels were within normal range among men receiving the various therapies. As expected, we found a statistically significant decrease amongst the different T preparations in serum 17-OHP. Longer acting T preparations such as T pellets and TC demonstrated the greatest decrease in 17-OHP, from 41 [20.3-65.6] to 14 [10.3-20.8] ng/dL and 80 [48-121] ng/dL to 20 [17-36] ng/dL (p<0.001), respectively. Shorter acting T preparations such as Natesto demonstrated a statistically significant decrease in 17-OHP, from 52.5 [26-67] ng/dL to 26.5 [18-39.8]ng/dL (p=0.007), but to a lesser extent as compared to the longer-acting preparations. Conclusions: Natesto, and other short acting forms of TRT may help hyogonadal men maintain Intratesticular T that is critical for maintaining spermatogenesis. The differential effects of TRT on intratesticular T based on their half-lives is novel and should be considered during the decision making for hypogondal men who wish to preserve fertility and / or testis size.
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Sherman, M., S. Younger, and J. Sherman. "1309 Elevated 17-Hydroxyprogesterone [17-Ohp] Levels: A Fetoplacental Mechanism to Prevent Preterm Birth?" Archives of Disease in Childhood 97, Suppl 2 (October 1, 2012): A373. http://dx.doi.org/10.1136/archdischild-2012-302724.1309.
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Soliman, A. T. "Congenital Adrenal Hyperplasia: Family Screening Using 17-hydroxyprogesterone (17-OHP) Response to Adrenocorticotopin (ACTH)." Journal of Tropical Pediatrics 52, no. 2 (November 16, 2005): 147–48. http://dx.doi.org/10.1093/tropej/fmi089.
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Votava, Felix, Dóra Török, József Kovács, Dorothea Möslinger, Sabina M. Baumgartner-Parzer, János Sólyom, Zuzana Pribilincová, et al. "Estimation of the false-negative rate in newborn screening for congenital adrenal hyperplasia." European Journal of Endocrinology 152, no. 6 (June 2005): 869–74. http://dx.doi.org/10.1530/eje.1.01929.
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Objective: Newborn screening based on measurement of 17α-hydroxyprogesterone (17-OHP) in a dried blood spot on filter paper is an effective tool for early diagnosis of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. Its most important rationale is prevention of a life-threatening salt-wasting (SW) crisis; in moderate forms of CAH, early diagnosis and treatment may prevent permanent negative effects of androgen overproduction. Our target was to analyse if all CAH patients who had been identified clinically before puberty would have been detected by the newborn screening. Methods: Newborn screening cards of 110 CAH patients born between 1988 and 2000 in five Middle-European countries and diagnosed prior to puberty (77 SW and 33 moderate) and cards from 920 random, healthy newborn controls were analysed. CAH screening had not yet been introduced during this time. The diagnosis was based on clinical and laboratory signs and, in most cases, on CYP21 gene mutation analysis. All 17-OHP measurements in dried blood spots were carried out using a time-resolved fluoroimmunoassay kit. Results: In the newborn screening blood spots, the median of 17-OHP levels was 561 nmol/l (range 91–1404 nmol/l) in subjects with the SW form and 40 nmol/l (4–247 nmol/l) in the moderate form. All 77 SW patients would have been detected by newborn screening using the recommended cut-off limits (30 nmol/l). However, 10 of 33 patients with moderate CAH would have been missed. 17-OHP levels of all controls were below the cut-off. Conclusion: Newborn screening is efficient for diagnosing the SW form of CAH, but is inappropriate for identifying all patients with a moderate form of CAH. It appears that the false-negative rate is at least one-third in children with the moderate form of CAH.
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Diramerian, Linda Garabet, Bianca Russell, and Harvey Chiu. "ODP375 Absence of Virilization With Completely Normal Phenotype in a Newborn Female With Salt-Wasting Classical CAH." Journal of the Endocrine Society 6, Supplement_1 (November 1, 2022): A598—A599. http://dx.doi.org/10.1210/jendso/bvac150.1240.
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Abstract Background Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder that leads to the disruption of adrenal steroidogenesis. 21-hydroxylase deficiency is the most common form and is caused by the mutations in the 21-hydroxylase (CYP21A2) gene. Deficiency in the 21-hydroxylase enzyme can affect aldosterone and cortisol production and shift the pathway to increased androgen production. It is classified as classical and nonclassical depending on the severity of enzyme deficiency. The classical form can present as a life-threatening salt-wasting or a milder form of simple virilizing CAH. Female patients with classical 21-hydroxylase deficiency present with ambiguous genitalia secondary to increased androgen production. We present a case of salt-wasting classical CAH in a female patient with no signs of virilization that was diagnosed based on newborn screening. Case presentation A four-day-old full-term female was referred to our hospital for elevated 17 hydroxyprogesterone (17-OHP) on a newborn screen. She was born via normal vaginal delivery with an uncomplicated prenatal and postnatal course. Her newborn screen was drawn at day 1 of life resulted in 17-OHP of 128.20 nmol/L (normal cutoff of 85 nmol/L). Otherwise, she was active, feeding well with no other concerns. On admission, her vital signs were within normal, with an unremarkable physical examination. Specifically, the genitourinary exam demonstrated normal female external genitalia with no evidence of virilization, no clitoromegaly with a clitoris length of 12 mm and width 1-2 mm, no hyperpigmentation, and with normal-appearing vaginal orifice and urethral meatus. Confirmatory 17-OHP by mass spectrometry was sent along with the metabolic panel, and her initial electrolytes were within normal. Since there was a low suspicion for salt-wasting CAH given her normal labs and unremarkable physical exam, medication was not started, and the patient was admitted for monitoring. The potassium level trended up abnormally to 6.3 mmol/L, which prompted the initiation of empiric treatment with a physiologic dose of Hydrocortisone and Florinef on day of life 7, pending confirmatory 17-OHP level. Confirmatory17-OHP was 1242 ng/dL (normal <78) and following stimulation with Cosyntropin a markedly elevated 17-OHP 27,929.31 ng/dL (normal expected 7-106) and low cortisol level 2 mcg/dL, for which definitive treatment with hydrocortisone and Florinef were initiated. Subsequent genetic testing confirmed the diagnosis of 21-hydroxylase deficiency with mutations in the CYP21A2 gene for I172N, R356W, and c. *13G>A. Further genetic workup to explain the complete lack of virilization, including assessment of an androgen insensitivity panel and whole-exome sequencing, was unremarkable. Conclusion This case illustrates the critical importance of heel-stick newborn screening for CAH to prevent a life-threatening salt-wasting crisis as female patients with classical CAH can present with a phenotypic complete lack of virilization that could be misleading and fatal if not recognized. Presentation: No date and time listed
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Souto, Selma B., Pedro V. Baptista, Filomena Barreto, Pedro F. Sousa, Daniel C. Braga, and Davide Carvalho. "Ovarian intratumoral 21-hydroxylase deficiency in a postmenopausal hirsute woman." Arquivos Brasileiros de Endocrinologia & Metabologia 56, no. 9 (December 2012): 672–76. http://dx.doi.org/10.1590/s0004-27302012000900012.
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Virilising ovarian tumours are a rare cause of hyperandrogenism in women, accounting for less than 5% of all ovarian neoplasms. It occurs most often in - and postmenopausal women. We report a case of a 64 year-old woman with signs of virilisation that had started 3 years before. Blood hormone analysis revealed increased levels of testosterone, and 17-hydroxyprogesterone. The tetracosactin test revealed 21-hydroxylase deficiency. Radiological imaging demonstrated a nodule in her left ovary. The patient was submitted to bilateral laparoscopic oophorectomy, and histopathological examination revealed a luteoma of the left ovary. Postoperative serum testosterone level and 17-hydroxyprogesterone returned to normal levels in one month. Virilism regressed within six months. Our patient also showed an elevation in 17-OHP serum levels. Normalization of 17-OHP after oophorectomy suggests a case of intratumoral 21-hydroxylase deficiency. To our knowledge, this is the first description of ovarian intratumoral 21-hydroxylase deficiency in a postmenopausal woman. Arq Bras Endocrinol Metab. 2012;56(9):672-6
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Knochenhauer, E. S., C. Cortet-Rudelli, R. D. Cunnigham, B. A. Conway-Myers, D. Dewailly, and R. Azziz. "Carriers of 21-Hydroxylase Deficiency Are Not at Increased Risk for Hyperandrogenism*." Journal of Clinical Endocrinology & Metabolism 82, no. 2 (February 1, 1997): 479–85. http://dx.doi.org/10.1210/jcem.82.2.3759.
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Abstract A deficiency of 21-hydroxylase activity is one of the most commonly inherited genetic disorders in man, with heterozygosity for CYP21 mutations affecting approximately 1 in 60 of the non-Jewish Caucasian population. We have hypothesized that heterozygosity for CYP21 mutations in women increases their risk of developing clinically evident hyperandrogenism, and that this risk is related to the severity of the mutation of CYP21 and/or the 17-hydroxyprogesterone (17-OHP) response to ACTH stimulation. To test these hypotheses, we studied 38 obligate carriers for 21-hydroxylase deficiency (i.e. mothers of children with congenital adrenal hyperplasia or nonclassic congenital adreanl hyperplasia), comparing them to 27 weight-, parity-, and age-matched controls. Premenopausal carriers, not receiving hormonal treatment (n = 27), had higher mean total and free testosterone [T; 2.02 ± 0.55 vs. 1.56 ± 0.65 nmol/L (P < 0.007) and 0.018 ± 0.007 vs. 0.012 ± 0.006 nmol/L (P < 0.007), respectively] and lower mean sex hormone-binding globulin (214 ± 62 vs. 277 ± 129 nmol/L; P < 0.03) levels compared to controls. There was no difference in the mean basal levels of dehydroepiandrosterone sulfate, androstenedione (A4), or 17-OHP between carriers and controls. As expected, carriers exhibited higher stimulated and net increment 17-OHP levels than controls [21.1 ± 27.1 vs. 6.2± 3.1 nmol/L (P < 0.01) and 19.0 ± 26.5 vs. 4.4 ± 2.8 nmol/L (P < 0.009), respectively]. However, no difference was observed in the response of A4 to ACTH-(1–24) stimulation. Of the 27 carriers studied biochemically, 2 (7.4%) had a stimulated 17-OHP value between 30.3–60.6 nmol/L, and 1 (3.7%) had a 17-OHP level above 60.6 nmol/L, suggestive of nonclassic adrenal hyperplasia. Of all carriers studied genetically (n = 36), 50.0% (18 of 36) had 1, 33% (12 of 36) had 2, and 16.7% (6 of 36) had 3 or more mutations. In 27.8% (10 of 36) of carriers, the mutations were contiguous, consistent with a large gene conversion. All 38 carriers were examined for historical and physical features of hyperandrogenism. Hirsutism was defined as a Ferriman-Gallwey score of 6 or more, menstrual/ovulatory dysfunction as a history of menstrual cycles of more than 35-day, and hyperandrogenemia as total or free T, A4, and/or dehydroepiandrosterone sulfate levels above the upper 95th percentile of control values. Further, defining functional androgen excess (FAE) as the presence of at least 2 of the 3 hyperandrogenic features, 4 of 38 (10.5%) of carriers appeared to be affected (95% confidence interval, 2.9–24.8%). Assuming an expected prevalence rate of FAE in the general population of 5–20%, the frequency of FAE among our carriers was not significantly higher than expected. In conclusion, heterozygosity for CYP21 mutations does not appear to increase the risk of clinically evident hyperandrogenism, although carrying the defect was associated with higher mean and free T levels. Finally, due to the low frequency of androgen excess in our heterozygote population, we were unable to correlate the severity of the CYP21 mutation and/or the 17-OHP response to ACTH stimulation with the presence of the phenotype.