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Journal articles on the topic 'Congenital hypogonadotropic hypogonadism'

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Published: 10 March 2023

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1

Lee, Hae Sang, Young Suk Shim, and Jin Soon Hwang. "Treatment of congenital hypogonadotropic hypogonadism in male patients." Annals of Pediatric Endocrinology & Metabolism 27, no. 3 (September 30, 2022): 176–82. http://dx.doi.org/10.6065/apem.2244208.104.

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Congenital hypogonadotropic hypogonadism (CHH) is characterized by complete or partial failure of pubertal development because of inadequate secretion of gonadotropic hormones. CHH consists of hypogonadotropic hypogonadism with anosmia or hyposmia, Kallmann syndrome, and the normosmic variation normosmic idiopathic hypogonadotropic hypogonadism. CHH is one of the few treatable diseases of male infertility, although men with primary testicular dysfunction have irreversibly diminished spermatogenic capacity. The approach to CHH treatment is determined by goals such as developing virilization or inducing fertility. This review focuses on the current knowledge of therapeutic modalities for inducing puberty and fertility in men with CHH.
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Kokoreva, K. D., I. S. Chugunov, and O. B. Bezlepkina. "Molecular genetics and phenotypic features of congenital isolated hypogonadotropic hypogonadism." Problems of Endocrinology 67, no. 4 (September 16, 2021): 46–56. http://dx.doi.org/10.14341/probl12787.

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Congenital isolated hypogonadotropic hypogonadism includes a group of diseases related to the defects of secretion and action of gonadotropin-releasing hormone (GNRH) and gonadotropins. In a half of cases congenital hypogonadism is associated with an impaired sense of smell. It’s named Kallmann syndrome. Now 40 genes are known to be associated with function of hypothalamus pituitary gland and gonads. Phenotypic features of hypogonadism and therapy effectiveness are related to different molecular defects. However clinical signs may vary even within the same family with the same molecular genetic defect. Genotype phenotype correlation in patients with congenital malformations prioritizes the search for mutations in candidate genes. There are data of significant contribution of oligogenicity into the phenotype of the disease are presented in the review. Moreover, an issue of current isolated hypogonadotropic hypogonadism definition and classification revision is raised in the review due to hypogonadotropic hypogonadism development while there are mutations in genes not associated with GNRH neurons secretion and function.
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3

Kokoreva, K. D., I. S. Chugunov, M. A. Kareva, and O. B. Bezlepkina. "Puberty induction in boys with congenital isolated hypogonadotropic hypogonadism." Problems of Endocrinology 69, no. 1 (February 25, 2023): 59–67. http://dx.doi.org/10.14341/probl13141.

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BACKGROUND: Gonadotropin therapy in boys with congenital isolated hypogonadotropic hypogonadism helps to increase testes volume and induce spermatogenesis in comparison with testosterone therapy. However, difficulties with dose titration, partial therapy success, absence of generally accepted regimen protocols don’t allow to use this therapy in order to induce puberty in adolescents with Kallmann syndrome or normosmic hypogonadotropic hypogonadism.AIM: To assess the effectiveness of combination hormonal replacement therapy via human chorionic gonadotropin and recombinant follicle stimulation hormone in adolescents with congenital isolated normosmic hypogonadotropic hypogonadism and with Kallmann syndromeMATERIALS AND METHODS: This is an open single-center prospective non-controlled study. Boys with hypogonadotropic hypogonadism were receiving hormonal replacement therapy for 12 months. Initial dose of human chorionic gonadotropin was 500 IU per week. Initial dose of recombinant follicle stimulation hormone was 37.5 IU per week. Doses were doubled in 6 months. Antropometric data, Tanner stage, testes volumes, inhibin B and anti-Mullerian hormone (AMH) levels were evaluated in all the patients before the treatment, after 6 and 12 months of the therapy.RESULTS: 8 boys with hypogonadotropic hypogonadism were included into the study. Median age before therapy initiation was 15.7 years [15.33; 16.41]. In 12 months after the therapy initiation puberty development, testosterone increase from 0.44 [0.34;0.62] to 4.39 [0.88;10.51] nmol/l (p=0.012), AMH decrease from 35.70 [18.00;59.00] to 14.41 [11.60;16.65] ng/ml were noted in all the patients (p=0.017). Testes volumes increase and inhibin B level increase were not statistically significant.CONCLUSION: Gonadotropin therapy is effective in order to puberty initiation in adolescents with congenital hypogonadotropic hypogonadism. In helps to achieve not only androgenization, but also to Sertoli cells maturation.
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Young, Jacques, Cheng Xu, Georgios E. Papadakis, James S. Acierno, Luigi Maione, Johanna Hietamäki, Taneli Raivio, and Nelly Pitteloud. "Clinical Management of Congenital Hypogonadotropic Hypogonadism." Endocrine Reviews 40, no. 2 (January 29, 2019): 669–710. http://dx.doi.org/10.1210/er.2018-00116.

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Abs, Roger, Elisabeth Van Vleymen, Paul M. Parizel, Kristien Van Acker, Manou Martin, and Jean-Jacques Martin. "Congenital cerebellar hypoplasia and hypogonadotropic hypogonadism." Journal of the Neurological Sciences 98, no. 2-3 (September 1990): 259–65. http://dx.doi.org/10.1016/0022-510x(90)90267-q.

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6

Suresh Babu, P. S., K. Nagendra, R. Sarfaraz Navaz, and H. M. Ravindranath. "Congenital toxoplasmosis presenting as hypogonadotropic hypogonadism." Indian Journal of Pediatrics 74, no. 6 (June 2007): 577–79. http://dx.doi.org/10.1007/s12098-007-0096-9.

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7

Makretskaya, N. A., M. V. Gerasimova, E. V. Vasilyev, N. A. Zubkova, N. Y. Kalinchenko, A. A. Kolodkina, V. M. Petrov, et al. "Clinical and molecular genetic features of cases of isolated hypogonadotropic hypogonadism, associated with defects in GNRHR genes." Problems of Endocrinology 67, no. 3 (July 22, 2021): 62–67. http://dx.doi.org/10.14341/probl12746.

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Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder characterised by lack of pubertal development and infertility, due to deficient production, secretion or action of gonadotropin-releasing hormone (GnRH). Clinically, there are variants of CHH with hypo-/anosmia (Kalman syndrome) and normosmic hypogonadotropic hypogonadism. Given a growing list of gene mutations accounting for CHH, the application of next generation sequencing (NGS) comprises an excellent molecular diagnostic approach because it enables the simultaneous evaluation of many genes. Biallelic mutations in GNRHR gene lead to the development of hypogonadotropic hypogonadism with normosmia. In this paper, we describe 16 patients with proven GnRH resistance and estimate the frequency of pathogenic variants in the GNRHR gene in the Russian population.
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8

Maione, Luigi, Frederique Albarel, Philippe Bouchard, Megan Gallant, Colleen A. Flanagan, Regis Bobe, Joelle Cohen-Tannoudji, et al. "R31C GNRH1 Mutation and Congenital Hypogonadotropic Hypogonadism." PLoS ONE 8, no. 7 (July 25, 2013): e69616. http://dx.doi.org/10.1371/journal.pone.0069616.

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9

Acierno, James S., Cheng Xu, Georgios E. Papadakis, Nicolas J. Niederländer, Jesse D. Rademaker, Jenny Meylan, Andrea Messina, et al. "Pathogenic mosaic variants in congenital hypogonadotropic hypogonadism." Genetics in Medicine 22, no. 11 (July 29, 2020): 1759–67. http://dx.doi.org/10.1038/s41436-020-0896-0.

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10

Tommiska, Johanna, Johanna Känsäkoski, Peter Christiansen, Niels Jørgensen, Jacob Gerner Lawaetz, Anders Juul, and Taneli Raivio. "Genetics of congenital hypogonadotropic hypogonadism in Denmark." European Journal of Medical Genetics 57, no. 7 (July 2014): 345–48. http://dx.doi.org/10.1016/j.ejmg.2014.04.002.

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11

Liu, Siyue, Libin Yan, Xinrong Zhou, Chen Chen, Daowen Wang, and Gang Yuan. "Delayed-onset adrenal hypoplasia congenita and hypogonadotropic hypogonadism caused by a novel mutation in DAX1." Journal of International Medical Research 48, no. 2 (October 23, 2019): 030006051988215. http://dx.doi.org/10.1177/0300060519882151.

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In this study, we described a male who presented with delayed-onset adrenal hypoplasia congenita (AHC) and mild hypogonadotropic hypogonadism (HHG) without a relevant family history. A novel mutation in the DAX1 (dosage-sensitive sex reversal, congenital adrenal hypoplasia critical region on the X chromosome, gene 1) gene was shown to cause X-linked AHC and HHG. Genetic analysis revealed a novel nonsense mutation, c.154G > T (p.Glu52Term), in the DAX1 gene. Molecular testing demonstrated that the milder phenotype caused by this mutation was due to expression of a partially functional, amino-truncated DAX1 protein generated from an alternate in-frame translation start site (methionine at codon 83). This unusual case revealed a potential mechanism for a novel mutation that resulted in an unusual delayed-onset mild clinical phenotype. It expands the spectrum of adrenal hypoplasia congenita and hypogonadotropic hypogonadism.
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12

Gerasimova, Maria V., Natalya U. Kalinchenko, Evgeniy V. Vasiliev, Vasiliy M. Petrov, and Anatoly N. Tiulpakov. "Familial case of normosmic hypogonadotropic hypogonadism with polydactyly, associated with defect of FGFR1 gene." Problems of Endocrinology 64, no. 1 (April 9, 2018): 38–41. http://dx.doi.org/10.14341/probl201864138-41.

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Congenital isolated hypogonadotropic hypogonadism refers to a group of predominantly monogenic diseases associated with impaired production, secretion, and/or action of the gonadotropin-releasing hormone (GnRH), which leads to a pronounced delay or absence of puberty. Clinical and genetic heterogeneity is typical of this group of diseases. To date, about 30 candidate genes associated with the development of various forms of secondary hypogonadism are known. Congenital hypogonadotropic hypogonadism can be verified only using molecular genetic diagnostics. The correct diagnosis is necessary for predicting the disease course and choosing the proper approach for managing the patient. We describe a familial case of normosmic hypogonadotropic hypogonadism and late puberty associated with a mutation in the FGFR1 gene. The case is interesting because of pronounced phenotypic manifestations and their high concentration in the proband’s family history. Also of interest is the phenotype untypical of mutations in this gene. The molecular genetic study was performed using new generation sequencing with the authors’ panel of primers and a PGM semiconductor sequencer (Ion Torrent). The Sanger method was used to confirm the identified mutation and examine the proband’s relative. In both patients, a heterozygous mutation in the FGFR1 gene, previously described in Kallmann syndrome, was detected.
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13

Gerasimova, Maria V., Natalya U. Kalinchenko, Evgeniy V. Vasiliev, Vasiliy M. Petrov, and Anatoly N. Tiulpakov. "Familial case of normosmic hypogonadotropic hypogonadism with polydactyly, associated with defect of FGFR1 gene." Problems of Endocrinology 64, no. 1 (April 9, 2018): 38–41. http://dx.doi.org/10.14341/probl8706.

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Congenital isolated hypogonadotropic hypogonadism refers to a group of predominantly monogenic diseases associated with impaired production, secretion, and/or action of the gonadotropin-releasing hormone (GnRH), which leads to a pronounced delay or absence of puberty. Clinical and genetic heterogeneity is typical of this group of diseases. To date, about 30 candidate genes associated with the development of various forms of secondary hypogonadism are known. Congenital hypogonadotropic hypogonadism can be verified only using molecular genetic diagnostics. The correct diagnosis is necessary for predicting the disease course and choosing the proper approach for managing the patient. We describe a familial case of normosmic hypogonadotropic hypogonadism and late puberty associated with a mutation in the FGFR1 gene. The case is interesting because of pronounced phenotypic manifestations and their high concentration in the proband’s family history. Also of interest is the phenotype untypical of mutations in this gene. The molecular genetic study was performed using new generation sequencing with the authors’ panel of primers and a PGM semiconductor sequencer (Ion Torrent). The Sanger method was used to confirm the identified mutation and examine the proband’s relative. In both patients, a heterozygous mutation in the FGFR1 gene, previously described in Kallmann syndrome, was detected.
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14

Varimo, Tero, Matti Hero, Eeva-Maria Laitinen, Päivi J. Miettinen, Johanna Tommiska, Johanna Känsäkoski, Anders Juul, and Taneli Raivio. "Childhood growth in boys with congenital hypogonadotropic hypogonadism." Pediatric Research 79, no. 5 (December 31, 2015): 705–9. http://dx.doi.org/10.1038/pr.2015.278.

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15

Bouvattier, Claire, Luigi Maione, Jérôme Bouligand, Catherine Dodé, Anne Guiochon-Mantel, and Jacques Young. "Neonatal gonadotropin therapy in male congenital hypogonadotropic hypogonadism." Nature Reviews Endocrinology 8, no. 3 (October 18, 2011): 172–82. http://dx.doi.org/10.1038/nrendo.2011.164.

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16

Young, Jacques, Jérôme Bouligand, Bruno Francou, Marie-Laure Raffin-Sanson, Stéphanie Gaillez, Marc Jeanpierre, Michael Grynberg, et al. "TAC3andTACR3Defects Cause Hypothalamic Congenital Hypogonadotropic Hypogonadism in Humans." Journal of Clinical Endocrinology & Metabolism 95, no. 5 (May 1, 2010): 2287–95. http://dx.doi.org/10.1210/jc.2009-2600.

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17

Loktionova, A. S., and I. A. Ilovayskaya. "Etiopathogenetic aspects of central (hypogonadotropic) hypogonadism in female." Medical Herald of the South of Russia 10, no. 4 (December 26, 2019): 15–27. http://dx.doi.org/10.21886/2219-8075-2019-10-4-15-27.

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Central hypogonadism (CH) is a rare endocrine disorder caused by the disfunction of production, secretion and/or biological action of gonadotropin-releasing hormone (GnRH), which is the main hormonal regulator of hypothalamo-pituitarygonadal axis in human. Female CH is important medical and social concern due to large amount of infertile couples. Etiological structure of this condition is heterogeneous and diff ers between congenital and acquired forms. Congenital forms have a genetic predisposition: currently about 50 genes associated with CH have been found. However, genetic basis can be identifi ed just in half of CH cases. Speaking about acquired forms of CH, important to pay attention on hypothalamo-pituitary area condition. In case of intact state the functional form of CH can be diagnosed, the presence of structural disorders in this area speaks in favor of the organic cause of CH. In this review are summarized current knowledge in the fi eld of etiology and pathogenesis of female central hypogonadism.
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18

Kwon, Ahreum, and Ho-Seong Kim. "Congenital hypogonadotropic hypogonadism: from clinical characteristics to genetic aspects." Precision and Future Medicine 5, no. 3 (September 30, 2021): 97–105. http://dx.doi.org/10.23838/pfm.2021.00093.

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Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder caused by a deficiency in gonadotropin-releasing hormone (GnRH). CHH is characterized by delayed puberty and/or infertility; this is because GnRH is the main component of the hypothalamic-pituitary-gonadal (HPG) axis, which is a key factor in pubertal development and reproductive function completion. However, since the development of sexual characteristics and reproduction begins in the prenatal period and is very complex and delicate, the clinical characteristics and involved genes are very diverse. In particular, the HPG axis is activated three times in a lifetime, and the symptoms and biochemical findings of CHH vary by period. In addition, related genes also vary according to the formation and activation process of the HPG axis. In this review, the clinical characteristics and treatment of CHH according to HPG axis activation and different developmental periods are reviewed, and the related genes are summarized according to their pathological mechanisms.
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19

Xu, C., M. Lang-Muritano, F. Phan-Hug, A. A. Dwyer, G. P. Sykiotis, D. Cassatella, J. Acierno, M. Mohammadi, and N. Pitteloud. "Genetic testing facilitates prepubertal diagnosis of congenital hypogonadotropic hypogonadism." Clinical Genetics 92, no. 2 (March 30, 2017): 213–16. http://dx.doi.org/10.1111/cge.12996.

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20

Young, Jacques. "Approach to the Male Patient with Congenital Hypogonadotropic Hypogonadism." Journal of Clinical Endocrinology & Metabolism 97, no. 3 (March 1, 2012): 707–18. http://dx.doi.org/10.1210/jc.2011-1664.

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21

Lima Amato, Lorena Guimaraes, Ana Claudia Latronico, and Leticia Ferreira Gontijo Silveira. "Molecular and Genetic Aspects of Congenital Isolated Hypogonadotropic Hypogonadism." Endocrinology and Metabolism Clinics of North America 46, no. 2 (June 2017): 283–303. http://dx.doi.org/10.1016/j.ecl.2017.01.010.

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22

Dwyer, Andrew A., Taneli Raivio, and Nelly Pitteloud. "MANAGEMENT OF ENDOCRINE DISEASE: Reversible hypogonadotropic hypogonadism." European Journal of Endocrinology 174, no. 6 (June 2016): R267—R274. http://dx.doi.org/10.1530/eje-15-1033.

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Congenital hypogonadotropic hypogonadism (CHH) is characterized by lack of puberty and infertility. Traditionally, it has been considered a life-long condition yet cases of reversibility have been described wherein patients spontaneously recover function of the reproductive axis following treatment. Reversibility occurs in both male and female CHH cases and appears to be more common (~10–15%) than previously thought. These reversal patients span a range of GnRH deficiency from mild to severe and many reversal patients harbor mutations in genes underlying CHH. However, to date there are no clear factors for predicting reversible CHH. Importantly, recovery of reproductive axis function may not be permanent. Thus, CHH is not always life-long and the incidence of reversal warrants periodic treatment withdrawal with close monitoring and follow-up. Reversible CHH highlights the importance of environmental (epigenetic) factors such as sex steroid treatment on the reproductive axis in modifying the phenotype. This review provides an overview and an update on what is known about this phenomenon.
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23

Loktionova, Anna S., Natela G. Eneva, Karina A. Khusniyarova, Lidia N. Nefedova, Alexander I. Kim, Alexander V. Dreval, and Irena A. Ilovayskaya. "mRNA analysis of genes responsible for idiopathic hypogonadotrophic hypogonadism." Problems of Endocrinology 62, no. 5 (September 22, 2016): 40–41. http://dx.doi.org/10.14341/probl201662540-41.

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Background. Hypogonadotropic hypogonadism (HH) is a disorder characterized by delayed or absent pubertal development due to pathology of the hypothalamic-pituitary-gonadal axis. HH may be both congenital (Kallmann’s syndrome) and sporadic. Congenital or isolated HH is divided into with anosmia/hyposmia (KS) and with normal olfaction (nIHH). Nowadays several tens of genes involved in the functioning of the reproductive axis are known. However DNA lesions can be found just in 5-15% of such cases of HH.Aim. So we decided to measure mRNA expression of several genes which can be found in leukocytes of peripheral blood - namely GNRHR and GNRH1 (are necessary for adequate biological effect of GnRH); PROK2 and CHD7 (are responsible for the migration of GnRH neurons), WDR11 and DUSP6 (are involved in normal sexual development).Methods. A quantitative determination of mRNA expression of these genes were comlpeted in the fresh peripheral blood sample by PCR in real time.Results. Examined patients: 9 women with hypogonadotropic hypogonadism (age from 18 to 28 y.o.); duration of the disease from 2 to 15 years; 3 of them – amenorrhea I and 6 – amenorrhea II. Reasons of amenorrhea II were: stress, excessive exercises, rapid body weight loss, past use of oral contraceptives. The control group: 19 healthy women; age from 19 to 37 y.o.; with regular ovalutory menstrual cycle, some of them have children. mRNA expression of examined genes differed from normal patterns in each case of hypogonadotropic hypogonadism. Changes in GNRHR, GNRH1 and DUSP6 mRNA expression were found in most of cases. However variations of mRNA expression were multidirectional in each case and there was no similarity among expression profiles of patients according to amenorrhea type or anamnestic factors.Conclusions. According to our preliminary results, in women with hypogonadotropic hypogonadism the functional activity damage of “reproductive-responsible” genes could be found in each case. Probably mRNA expression measuring could be a perspective method for proving hypothalamo-pituitary level of reproductive disorders and may help to determine which genes should be tested for DNA impairment.
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24

Kim, Soo-Hyun. "Congenital Hypogonadotropic Hypogonadism and Kallmann Syndrome: Past, Present, and Future." Endocrinology and Metabolism 30, no. 4 (2015): 456. http://dx.doi.org/10.3803/enm.2015.30.4.456.

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25

Sinha, Sk, and R. Manghani. "CONGENITAL ADRENAL HYPERPLASIA: PRESENTING WITHHYPOCORTISOLISM; SEVEREHYPOCALCAEMIA; HYPOKALAEMIA AND HYPOGONADOTROPIC HYPOGONADISM." International Journal of Advanced Research 6, no. 3 (March 31, 2018): 1311–17. http://dx.doi.org/10.21474/ijar01/6800.

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26

Baysefer, Alper, Kamil Melih Akay, Mustafa Tasar, and Yusuf Izci. "Congenital Absence of Internal Carotid Artery Associated with Hypogonadotropic Hypogonadism." Vascular and Endovascular Surgery 36, no. 6 (November 2002): 457–60. http://dx.doi.org/10.1177/153857440203600606.

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27

Messina, Andrea, Kristiina Pulli, Sara Santini, James Acierno, Johanna Känsäkoski, Daniele Cassatella, Cheng Xu, et al. "Neuron-Derived Neurotrophic Factor Is Mutated in Congenital Hypogonadotropic Hypogonadism." American Journal of Human Genetics 106, no. 1 (January 2020): 58–70. http://dx.doi.org/10.1016/j.ajhg.2019.12.003.

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28

Bry-Gauillard, H., S. Trabado, J. Bouligand, J. Sarfati, B. Francou, S. Salenave, P. Chanson, S. Brailly-Tabard, A. Guiochon-Mantel, and J. Young. "Congenital hypogonadotropic hypogonadism in females: Clinical spectrum, evaluation and genetics." Annales d'Endocrinologie 71, no. 3 (May 2010): 158–62. http://dx.doi.org/10.1016/j.ando.2010.02.024.

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29

Persani, Luca, Marco Bonomi, Martine Cools, Mehul Dattani, Leo Dunkel, Claus H. Gravholt, and Anders Juul. "ENDO-ERN expert opinion on the differential diagnosis of pubertal delay." Endocrine 71, no. 3 (January 29, 2021): 681–88. http://dx.doi.org/10.1007/s12020-021-02626-z.

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AbstractThe differential diagnoses of pubertal delay include hypergonadotropic hypogonadism and congenital hypogonadotropic hypogonadism (CHH), as well as constitutional delay of growth and puberty (CDGP). Distinguishing between CDGP and CHH may be challenging, and the scientific community has been struggling to develop diagnostic tests that allow an accurate differential diagnosis. Indeed, an adequate and timely management is critical in order to enable optimal clinical and psychosocial outcomes of the different forms of pubertal delays. In this review, we provide an updated insight on the differential diagnoses of pubertal delay, including the available tests, their meanings and accuracy, as well as some clues to effectively orientate towards either constitutional pubertal delay or pathologic CHH and hypergonadotropic hypogonadism.
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30

Tiul'pakov, A. N., and N. Iu Kalinchenko. "Clinical and molecular genetic characteristic of 10 cases with congenital adrenal hypoplasia caused by DAX-1 gene defects." Problems of Endocrinology 56, no. 2 (April 15, 2010): 3–9. http://dx.doi.org/10.14341/probl20105623-9.

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X-linked congenital adrenal hypoplasia (CAH) is one of the most widespread forms of congenital hypocortisolism in boys. The disease is caused by defects in the NR0B1 gene that encodes for DAX1 protein. CAH manifests itself largely as adrenal insufficiency in young children and hypogonadotropic hypogonadism developing by the pubertal period. This paper describes 10 patients presenting with X-linked form of congenital adrenal hypoplasia. In six of them adrenal insufficiency was apparent during the first month of life and in the remaining four at a later time (up to the age of 13 years). Hypogonadism was diagnosed in all the patients (n=7) who reached the age of 15 by the moment of the last examination. Diagnosis of CAH was confirmed by molecular genetic analysis in all the ten cases. Nine different mutations in the NR0B1 gene were identified.
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31

Beneduzzi, Daiane, Anita K. Iyer, Ericka Barbosa Trarbach, Acacio P. Silveira-Neto, Letícia G. Silveira, Cintia Tusset, Kathleen Yip, Berenice B. Mendonça, Pamela L. Mellon, and Ana Claudia Latronico. "Mutational analysis of the necdin gene in patients with congenital isolated hypogonadotropic hypogonadism." European Journal of Endocrinology 165, no. 1 (July 2011): 145–50. http://dx.doi.org/10.1530/eje-11-0199.

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ContextNecdin activates GNRH gene expression and is fundamental for the development, migration, and axonal extension of murine GNRH neurons. In humans, necdin plays a potential role in the hypogonadotropic hypogonadism phenotype in patients with Prader–Willi syndrome.AimTo investigate necdin gene (NDN) variants in patients with isolated hypogonadotropic hypogonadism (IHH).Patients and methodsWe studied 160 Brazilian patients with IHH, which includes 92 with Kallmann syndrome and 68 with normosmic IHH. Genomic DNA was extracted and the single NDN exon was amplified and sequenced. To measure GNRH transcriptional activity, luciferase reporter plasmids containing GNRH regulatory regions were transiently transfected into GT1-7 cells in the presence and absence of overexpressed wild-type or mutant necdin.ResultsA heterozygous variant of necdin, p.V318A, was identified in a 23-year-old male with Kallmann syndrome. The p.V318A was also present in affected aunt and his father and was absent in 100 Brazilian control subjects. Previous FGFR1 gene analysis revealed a missense mutation (p.P366L) in this family. Functional studies revealed a minor difference in the activation of GNRH transcription by mutant protein compared with wild type in that a significant impairment of the necdin protein activity threshold was observed.ConclusionA rare variant of necdin (p.V318A) was described in a family with Kallmann syndrome associated with a FGFR1 mutation. Familial segregation and in vitro analysis suggested that this non-synonymous variant did not have a direct causative role in the hypogonadism phenotype. NDN mutations are not a frequent cause of congenital IHH.
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32

Galazzi, Elena, Paolo Duminuco, Mirella Moro, Fabiana Guizzardi, Nicoletta Marazzi, Alessandro Sartorio, Sabrina Avignone, Marco Bonomi, Luca Persani, and Maria Teresa Bonati. "Hypogonadotropic hypogonadism and pituitary hypoplasia as recurrent features in Ulnar-Mammary syndrome." Endocrine Connections 7, no. 12 (December 2018): 1432–41. http://dx.doi.org/10.1530/ec-18-0486.

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Ulnar-mammary syndrome (UMS) is characterized by ulnar defects, and nipple or apocrine gland hypoplasia, caused by TBX3 haploinsufficiency. Signs of hypogonadism were repeatedly reported, but the mechanisms remain elusive. We aim to assess the origin of hypogonadism in two families with UMS. UMS was suspected in two unrelated probands referred to an academic center with delayed puberty because of the evident ulnar ray and breast defects in their parents. Clinical, biochemical and genetic investigations proved the existence of congenital normosmic IHH (nIHH) associated with pituitary hypoplasia in the two probands who were heterozygous for novel TBX3 pathogenic variants. The mutations co-segregated with delayed puberty, midline defects (nose, teeth and tongue anomalies) and other variable features of UMS in the two families (absent axillary hairs and nipple hypoplasia, asymmetrical features including unilateral ulnar or renal abnormalities). The combined analysis of these findings and of the previous UMS reports showed delayed puberty and other signs of hypogonadism in 79 and 37% of UMS males, respectively. Proband 1 was followed up to adulthood with persistence of nIHH. In conclusion, UMS should be suspected in patients with delayed puberty and midline defects, including pituitary hypoplasia, in the presence of mild cues for TBX3 mutation, even in the absence of limb malformations. In addition, TBX3 should be included among candidate genes for congenital nIHH.
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Paz-Filho, Gilberto, Claudio Mastronardi, Tuncay Delibasi, Ma-Li Wong, and Julio Licinio. "Congenital leptin deficiency: diagnosis and effects of leptin replacement therapy." Arquivos Brasileiros de Endocrinologia & Metabologia 54, no. 8 (November 2010): 690–97. http://dx.doi.org/10.1590/s0004-27302010000800005.

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To describe our 10-year experience in treating leptin-deficient humans. Three adults and one boy presented with childhood-onset morbid obesity, hypogonadism and family history of obesity and early death. Serum leptin was inappropriately low. A recessive C105T leptin gene mutation was identified. Metabolic and endocrine assessments were conducted, before and while on and off leptin. The adults' body mass index decreased from 51.2 ± 2.5 to 29.5 ± 2.8 kg/m². Serum lipids normalized, insulin resistance decreased, and one of the initially diabetic females became normoglycemic. Hypogonadotropic hypogonadism was reversed, and other changes were observed in the adrenal, sympathetic, somatotropic and thyroid functions. Leptin replacement therapy reverses endocrine and metabolic alterations associated with leptin deficiency. Some of these results may be extrapolated to other diseases.
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Mao, Jiang-Feng, Xue-Yan Wu, Ming Hao, Min Nie, Bing-Qing Yu, Yin-Jie Gao, Xi Wang, Wan-Lu Ma, Qi-Bin Huang, and Rui Zhang. "Gonadotropin treatment for male partial congenital hypogonadotropic hypogonadism in Chinese patients." Asian Journal of Andrology 22, no. 4 (2020): 390. http://dx.doi.org/10.4103/aja.aja_88_19.

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Amato, Lorena Guimaraes Lima, Luciana Ribeiro Montenegro, Antonio Marcondes Lerario, Alexander Augusto Lima Jorge, Gil Guerra Junior, Caroline Schnoll, Alessandra Covallero Renck, et al. "New genetic findings in a large cohort of congenital hypogonadotropic hypogonadism." European Journal of Endocrinology 181, no. 2 (August 2019): 103–19. http://dx.doi.org/10.1530/eje-18-0764.

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Context Congenital hypogonadotropic hypogonadism (CHH) is a rare condition caused by GnRH deficiency. Several genes have been associated with the pathogenesis of CHH, but most cases still remain without a molecular diagnosis. The advent of next-generation sequencing (NGS) has allowed the simultaneous genotyping of several regions, faster, making possible the extension of the genetic knowledge of CHH. Objective Genetic characterization of a large cohort of Brazilian CHH patients. Design and patients A cohort of 130 unrelated patients (91 males, 39 females) with CHH (75 normosmic CHH, 55 Kallmann syndrome) was studied using a panel containing 36 CHH-associated genes. Results Potential pathogenic or probably pathogenic variants were identified in 43 (33%) CHH patients. The genes ANOS1, FGFR1 and GNRHR were the most frequently affected. A novel homozygous splice site mutation was identified in the GNRH1 gene and a deletion of the entire coding sequence was identified in SOX10. Deleterious variants in the IGSF10 gene were identified in two patients with reversible normosmic CHH. Notably, 6.9% of the patients had rare variants in more than one gene. Rare variants were also identified in SPRY4, IL17RD, FGF17, IGSF1 and FLRT3 genes. Conclusions This is a large study of the molecular genetics of CHH providing new genetic findings for this complex and heterogeneous genetic condition. NGS has been shown to be a fast, reliable and effective tool in the molecular diagnosis of congenital CHH and being able to targeting clinical genetic testing in the future.
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Brioude, Frédéric, Jérôme Bouligand, Séverine Trabado, Bruno Francou, Sylvie Salenave, Peter Kamenicky, Sylvie Brailly-Tabard, Philippe Chanson, Anne Guiochon-Mantel, and Jacques Young. "Non-syndromic congenital hypogonadotropic hypogonadism: clinical presentation and genotype–phenotype relationships." European Journal of Endocrinology 162, no. 5 (May 2010): 835–51. http://dx.doi.org/10.1530/eje-10-0083.

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Congenital hypogonadotropic hypogonadism (CHH) results from abnormal gonadotropin secretion, and it is characterized by impaired pubertal development. CHH is caused by defectiveGNRHrelease, or by a gonadotrope cell dysfunction in the pituitary. Identification of genetic abnormalities related to CHH has provided major insights into the pathways critical for the development, maturation, and function of the reproductive axis. Mutations in five genes have been found specifically in Kallmann's syndrome, a disorder in which CHH is related to abnormalGNRHneuron ontogenesis and is associated with anosmia or hyposmia.In combined pituitary hormone deficiency or in complex syndromic CHH in which gonadotropin deficiency is either incidental or only one aspect of a more complex endocrine disorder or a non-endocrine disorder, other mutations affectingGNRHand/or gonadotropin secretion have been reported.Often, the CHH phenotype is tightly linked to an isolated deficiency of gonadotropin secretion. These patients, who have no associated signs or hormone deficiencies independent of the deficiency in gonadotropin and sex steroids, have isolated CHH. In some familial cases, they are due to genetic alterations affectingGNRHsecretion (mutations inGNRH1,GPR54/KISS1RandTAC3andTACR3) or theGNRHsensitivity of the gonadotropic cells (GNRHR). A minority of patients with Kallmann's syndrome or a syndromic form of CHH may also appear to have isolated CHH, but close clinical, familial, and genetic studies can reorient the diagnosis, which is important for genetic counseling in the context of assisted reproductive medicine.This review focuses on published cases of isolated CHH, its clinical and endocrine features, genetic causes, and genotype–phenotype relationships.
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Boehm, Ulrich, Pierre-Marc Bouloux, Mehul T. Dattani, Nicolas de Roux, Catherine Dodé, Leo Dunkel, Andrew A. Dwyer, et al. "European Consensus Statement on congenital hypogonadotropic hypogonadism—pathogenesis, diagnosis and treatment." Nature Reviews Endocrinology 11, no. 9 (July 21, 2015): 547–64. http://dx.doi.org/10.1038/nrendo.2015.112.

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Xu, Cheng, Daniele Cassatella, Almer M. van der Sloot, Richard Quinton, Michael Hauschild, Christian De Geyter, Christa Flück, et al. "Evaluating CHARGE syndrome in congenital hypogonadotropic hypogonadism patients harboring CHD7 variants." Genetics in Medicine 20, no. 8 (November 16, 2017): 872–81. http://dx.doi.org/10.1038/gim.2017.197.

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Radi, Suhaib, and Andrew C. Karaplis. "A Case of Male Osteoporosis: A 37-Year-Old Man with Multiple Vertebral Compression Fractures." Case Reports in Endocrinology 2017 (2017): 1–7. http://dx.doi.org/10.1155/2017/6328524.

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While the contributing role of testosterone to bone health is rather modest compared to other factors such as estradiol levels, male hypogonadism is associated with low bone mass and fragility fractures. Along with stimulating physical puberty by achieving virilization and a normal muscle mass and improving psychosocial wellbeing, the goals of testosterone replacement therapy in male hypogonadism also include attainment of age-specific bone mineral density. We report on a 37-year-old man who presented with multiple vertebral compression fractures several years following termination of testosterone replacement therapy for presumed constitutional delay in growth and puberty. Here, we discuss the management of congenital hypogonadotropic hypogonadism with hyposmia (Kallmann syndrome), with which the patient was ultimately diagnosed, the role of androgens in the acquisition of bone mass during puberty and its maintenance thereafter, and outline specific management strategies for patients with hypogonadism and high risk for fragility fractures.
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Iivonen, Anna-Pauliina, Johanna Känsäkoski, Kirsi Vaaralahti, and Taneli Raivio. "Screening for mutations in selected miRNA genes in hypogonadotropic hypogonadism patients." Endocrine Connections 8, no. 5 (May 2019): 506–9. http://dx.doi.org/10.1530/ec-19-0080.

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In approximately half of congenital hypogonadotropic hypogonadism (cHH) patients, the genetic cause remains unidentified. Since the lack of certain miRNAs in animal models has led to cHH, we sequenced human miRNAs predicted to regulate cHH-related genes (MIR7-3, MIR141, MIR429 and MIR200A-C) in 24 cHH patients with Sanger sequencing. A heterozygous variant in MIR200A (rs202051309; general population frequency of 0.02) was found in one patient. Our results suggest that mutations in the studied miRNAs are unlikely causes of cHH. However, the complex interplay between miRNAs and their target genes in these diseases requires further investigations.
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Ostertag, Agnès, Georgios E. Papadakis, Corinne Collet, Severine Trabado, Luigi Maione, Nelly Pitteloud, Jerome Bouligand, Marie Christine De Vernejoul, Martine Cohen-Solal, and Jacques Young. "Compromised Volumetric Bone Density and Microarchitecture in Men With Congenital Hypogonadotropic Hypogonadism." Journal of Clinical Endocrinology & Metabolism 106, no. 9 (March 16, 2021): e3312-e3326. http://dx.doi.org/10.1210/clinem/dgab169.

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Abstract Context Men with congenital hypogonadotropic hypogonadism (CHH) and Kallmann syndrome (KS) have both low circulating testosterone and estradiol levels. Whether bone structure is affected remains unknown. Objective To characterize bone geometry, volumetric density and microarchitecture in CHH/KS. Methods This cross-sectional study, conducted at a single French tertiary academic medical center, included 51 genotyped CHH/KS patients and 40 healthy volunteers. Among CHH/KS men, 98% had received testosterone and/or combined gonadotropins. High-resolution peripheral quantitative computed tomography (HR-pQCT), dual-energy x-ray absorptiometry (DXA), and measurement of serum bone markers were used to determine volumetric bone mineral density (vBMD) and cortical and trabecular microarchitecture. Results CHH and controls did not differ for age, body mass index, and levels of vitamin D and PTH. Despite long-term hormonal treatment (10.8 ± 6.8 years), DXA showed lower areal bone mineral density (aBMD) in CHH/KS at lumbar spine, total hip, femoral neck, and distal radius. Consistent with persistently higher serum bone markers, HR-pQCT revealed lower cortical and trabecular vBMD as well as cortical thickness at the tibia and the radius. CHH/KS men had altered trabecular microarchitecture with a predominant decrease of trabecular thickness. Moreover, CHH/KS men exhibited lower cortical bone area, whereas total and trabecular areas were higher only at the tibia. Earlier treatment onset (before age 19 years) conferred a significant advantage for trabecular bone volume/tissue volume and trabecular vBMD at the tibia. Conclusion Both vBMD and bone microarchitecture remain impaired in CHH/KS men despite long-term hormonal treatment. Treatment initiation during adolescence is associated with enhanced trabecular outcomes, highlighting the importance of early diagnosis.
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Sharma, Shreya, Ravikumar Shah, Virendra Patil, Anurag R. Lila, Vijaya Sarathi, Nalini Shah, and Tushar Bandgar. "Gonadotropins for testicular descent in cryptorchid congenital hypogonadotropic hypogonadism males beyond infancy." Journal of Pediatric Endocrinology and Metabolism 34, no. 7 (April 26, 2021): 917–24. http://dx.doi.org/10.1515/jpem-2020-0683.

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Abstract Objectives To study the effect of combined gonadotropin therapy (CGT) on testicular descent ± spermatogenesis in congenital hypogonadotropic hypogonadism (CHH) patients with cryptorchidism beyond infancy. Methods This retrospective cohort study included CHH patients with cryptorchidism [bilateral (n=5) or unilateral (n=1)] treated with CGT for testicular descent ± pubertal induction. All participants were treated with CGT [human menopausal gonadotropin (hMG) and human chorionic gonadotropin (hCG)] with hMG pretreatment in three and monitored for changes in testicular volume (TV), serum total testosterone (T), serum inhibin-B, and sperm concentration. Results Complete testicular descent to the scrotal position was achieved in 5/6 patients (10/11 testes) after 4.7 ± 1.6 months of treatment. There was 44 ± 18%, 97.5% (IQR: 44–195), 10-fold (IQR: 3–19.6), and two-fold (IQR: 1.7–9.3) increase in stretched penile length, ultrasound measured TV, T level, and serum inhibin-B from baseline, respectively. In two pediatric cases, testicular descent occurred with isolated hMG therapy. At the last follow up (median: 23.5, IQR: 10.5–38.7 months), all the descended testes remained in scrotal position. In four pubertal/postpubertal age patients, continuous CGT (18–60 months) yielded T and inhibin-B levels of 16.64 ± 1.46 nmol/l and 106 ± 32.6 pg/mL, respectively. All the three patients with available semen analysis had sperm concentration of ≥5 million/mL and one of them achieved paternity. Conclusions A trial of CGT before orchiopexy may be considered in CHH males with cryptorchidism even beyond the narrow age-window of infancy. CGT may also have beneficial effects on future spermatogenesis and fertility outcomes in these patients.
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Dzemaili, Shota, Jitske Tiemensma, Richard Quinton, Nelly Pitteloud, Diane Morin, and Andrew A. Dwyer. "Beyond hormone replacement: quality of life in women with congenital hypogonadotropic hypogonadism." Endocrine Connections 6, no. 6 (August 2017): 404–12. http://dx.doi.org/10.1530/ec-17-0095.

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Objective Little is known about how women with isolated GnRH deficiency cope with their condition. This study aimed to examine the health and informational needs of women with congenital hypogonadotropic hypogonadism (CHH) and evaluate if their experiences differ from women with more common forms of infertility. Design Cross-sectional, multiple methods study using web-based data collection to reach dispersed rare disease patients. Methods A community-based participatory research framework was employed to develop an online survey and collect quantitative and qualitative data. Adult women diagnosed with CHH who had received at least one year of hormonal treatment completed the Morisky Medication Adherence Scale, Revised Illness Perception Questionnaire and Zung Self-Rating Depression Scale. Information on health care experiences, treatment outcomes and patient-reported challenges were also collected. Results Women (n = 55) were often diagnosed late (20.7 ± 7.4, range: 10–48 years) and 16/20 patients receiving fertility treatment conceived. Poor adherence was frequently observed (34/55) while more than half (27/49) reported a gap in treatment exceeding a year. Low adherence correlated with depressive symptoms (r = 0.3, P > 0.05). Negative illness perceptions were pervasive and 30/55 exhibited some depressive symptoms – significantly greater than women with common female factor infertility (P < 0.01). Symptoms were underappreciated by providers as only 15 of 55 patients had discussions about psychological services. Women identified isolation, need for information and finding expert care as challenges to living with CHH. Conclusions Despite being a treatable form of female infertility, the presumable availability of treatment does not necessarily ensure adequate quality of life for women with isolated GnRH deficiency.
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Gonçalves, Catarina I., José M. Aragüés, Margarida Bastos, Luísa Barros, Nuno Vicente, Davide Carvalho, and Manuel C. Lemos. "GNRHR biallelic and digenic mutations in patients with normosmic congenital hypogonadotropic hypogonadism." Endocrine Connections 6, no. 6 (August 2017): 360–66. http://dx.doi.org/10.1530/ec-17-0104.

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Objective Normosmic congenital hypogonadotropic hypogonadism (nCHH) is a rare disorder characterised by lack of pubertal development and infertility, due to deficient production, secretion or action of gonadotropin-releasing hormone (GnRH) and, unlike Kallmann syndrome, is associated with a normal sense of smell. Mutations in the GNRHR gene cause autosomal recessive nCHH. The aim of this study was to determine the prevalence of GNRHR mutations in a group of 40 patients with nCHH. Design Cross-sectional study of 40 unrelated patients with nCHH. Methods Patients were screened for mutations in the GNRHR gene by DNA sequencing. Results GNRHR mutations were identified in five of 40 patients studied. Four patients had biallelic mutations (including a novel frameshift deletion p.Phe313Metfs*3, in two families) in agreement with autosomal recessive inheritance. One patient had a heterozygous GNRHR mutation associated with a heterozygous PROKR2 mutation, thus suggesting a possible role of synergistic heterozygosity in the pathogenesis of the disorder. Conclusions This study further expands the spectrum of known genetic defects associated with nCHH. Although GNRHR mutations are usually biallelic and inherited in an autosomal recessive manner, the presence of a monoallelic mutation in a patient should raise the possibility of a digenic/oligogenic cause of nCHH.
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Swee, Du Soon, and Richard Quinton. "Current concepts surrounding neonatal hormone therapy for boys with congenital hypogonadotropic hypogonadism." Expert Review of Endocrinology & Metabolism 17, no. 1 (January 2, 2022): 47–61. http://dx.doi.org/10.1080/17446651.2022.2023008.

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Liu, Zhaoxiang, Jangfeng Mao, Xueyan Wu, Hongli Xu, Xi Wang, Bingkun Huang, Junjie Zheng, Min Nie, and Hongbing Zhang. "Efficacy and Outcome Predictors of Gonadotropin Treatment for Male Congenital Hypogonadotropic Hypogonadism." Medicine 95, no. 9 (March 2016): e2867. http://dx.doi.org/10.1097/md.0000000000002867.

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Känsäkoski, Johanna, Rainer Fagerholm, Eeva-Maria Laitinen, Kirsi Vaaralahti, Peter Hackman, Nelly Pitteloud, Taneli Raivio, and Johanna Tommiska. "Mutation screening of SEMA3A and SEMA7A in patients with congenital hypogonadotropic hypogonadism." Pediatric Research 75, no. 5 (February 12, 2014): 641–44. http://dx.doi.org/10.1038/pr.2014.23.

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48

Varimo, Tero, Matti Hero, Eeva-Maria Laitinen, Harri Sintonen, and Taneli Raivio. "Health-related quality of life in male patients with congenital hypogonadotropic hypogonadism." Clinical Endocrinology 83, no. 1 (January 27, 2015): 141–43. http://dx.doi.org/10.1111/cen.12701.

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Vizeneux, Audrey, Aude Hilfiger, Jérôme Bouligand, Monique Pouillot, Sylvie Brailly-Tabard, Anu Bashamboo, Ken McElreavey, and Raja Brauner. "Congenital Hypogonadotropic Hypogonadism during Childhood: Presentation and Genetic Analyses in 46 Boys." PLoS ONE 8, no. 10 (October 24, 2013): e77827. http://dx.doi.org/10.1371/journal.pone.0077827.

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Maione, Luigi, Annamaria Colao, and Jacques Young. "Bone mineral density in older patients with never-treated congenital hypogonadotropic hypogonadism." Endocrine 59, no. 1 (June 2, 2017): 231–33. http://dx.doi.org/10.1007/s12020-017-1334-1.

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