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Journal articles on the topic 'Hypogonadism/genetics'

Author: Grafiati

Published: 4 June 2021

Last updated: 17 February 2022

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1

Hay, Cathy, and Frederick Wu. "Genetics and hypogonadotrophic hypogonadism." Current Opinion in Obstetrics and Gynecology 14, no. 3 (June 2002): 303–8. http://dx.doi.org/10.1097/00001703-200206000-00010.

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2

Simoni, Manuela, and Eberhard Nieschlag. "Genetics of Hypogonadotropic Hypogonadism." Hormone Research in Paediatrics 67, no. 1 (2007): 149–54. http://dx.doi.org/10.1159/000097572.

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3

Seminara, S. B., L. M. B. Oliveira, M. Beranova, F. J. Hayes, and W. F. Crowley. "Genetics of hypogonadotropic hypogonadism." Journal of Endocrinological Investigation 23, no. 9 (October 2000): 560–65. http://dx.doi.org/10.1007/bf03343776.

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4

Millar, Adam C., Hanna Faghfoury, and Jared M. Bieniek. "Genetics of hypogonadotropic hypogonadism." Translational Andrology and Urology 10, no. 3 (March 2021): 1401–9. http://dx.doi.org/10.21037/tau.2020.03.33.

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5

Bhagavath, Balasubramanian, and Lawrence Layman. "The Genetics of Hypogonadotropic Hypogonadism." Seminars in Reproductive Medicine 25, no. 4 (July 2007): 272–86. http://dx.doi.org/10.1055/s-2007-980221.

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6

Layman, Lawrence C. "The Genetics of Hypogonadotropic Hypogonadism." Endocrinologist 9, no. 5 (September 1999): 366–70. http://dx.doi.org/10.1097/00019616-199909000-00007.

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7

Layman, Lawrence C. "Genetics of human hypogonadotropic hypogonadism." American Journal of Medical Genetics 89, no. 4 (December 29, 1999): 240–48. http://dx.doi.org/10.1002/(sici)1096-8628(19991229)89:4<240::aid-ajmg8>3.0.co;2-7.

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8

Clayton, R. N. "Molecular genetics, hypogonadism and luteinizing hormone." Clinical Endocrinology 37, no. 3 (September 1992): 201–2. http://dx.doi.org/10.1111/j.1365-2265.1992.tb02310.x.

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9

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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10

Layman, Lawrence C. "Idiopathic hypogonadotropic hypogonadism: Diagnosis, pathogenesis, genetics, and treatment." Adolescent and Pediatric Gynecology 4, no. 3 (1991): 111–18. http://dx.doi.org/10.1016/s0932-8610(19)80016-6.

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11

Bonomi, M., V. Rochira, D. Pasquali, G. Balercia, E. A. Jannini, and A. Ferlin. "Klinefelter syndrome (KS): genetics, clinical phenotype and hypogonadism." Journal of Endocrinological Investigation 40, no. 2 (September 19, 2016): 123–34. http://dx.doi.org/10.1007/s40618-016-0541-6.

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12

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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13

Guerra-Junior, Gil, Ana Claudia Latronico, Olaf Hiort, and Rodolfo Rey. "Disorders of Sex Development and Hypogonadism: Genetics, Mechanism, and Therapies." International Journal of Endocrinology 2012 (2012): 1–2. http://dx.doi.org/10.1155/2012/820373.

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14

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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15

Semple, Robert K., and A. Kemal Topaloglu. "The recent genetics of hypogonadotrophic hypogonadism - novel insights and new questions." Clinical Endocrinology 72, no. 4 (April 2010): 427–35. http://dx.doi.org/10.1111/j.1365-2265.2009.03687.x.

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16

Beate, Karges, Neulen Joseph, de Roux Nicolas, and Karges Wolfram. "Genetics of Isolated Hypogonadotropic Hypogonadism: Role of GnRH Receptor and Other Genes." International Journal of Endocrinology 2012 (2012): 1–9. http://dx.doi.org/10.1155/2012/147893.

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Hypothalamic gonadotropin releasing hormone (GnRH) is a key player in normal puberty and sexual development and function. Genetic causes of isolated hypogonadotropic hypogonadism (IHH) have been identified during the recent years affecting the synthesis, secretion, or action of GnRH. Developmental defects of GnRH neurons and the olfactory bulb are associated with hyposmia, rarely associated with the clinical phenotypes of synkinesia, cleft palate, ear anomalies, or choanal atresia, and may be due to mutations of KAL1, FGFR1/FGF8, PROKR2/PROK2, or CHD7. Impaired GnRH secretion in normosmic patients with IHH may be caused by deficient hypothalamic GPR54/KISS1, TACR3/TAC3, and leptinR/leptin signalling or mutations within the GNRH1 gene itself. Normosmic IHH is predominantly caused by inactivating mutations in the pituitary GnRH receptor inducing GnRH resistance, while mutations of theβ-subunits of LH or FSH are very rare. Inheritance of GnRH deficiency may be oligogenic, explaining variable phenotypes. Future research should identify additional genes involved in the complex network of normal and disturbed puberty and reproduction.

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17

Raivio, Taneli, and Päivi J. Miettinen. "Constitutional delay of puberty versus congenital hypogonadotropic hypogonadism: Genetics, management and updates." Best Practice & Research Clinical Endocrinology & Metabolism 33, no. 3 (June 2019): 101316. http://dx.doi.org/10.1016/j.beem.2019.101316.

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18

Ćatović, Amra. "Phenotype Manifestations of Polysomy X At Males." Bosnian Journal of Basic Medical Sciences 8, no. 3 (August 20, 2008): 287–90. http://dx.doi.org/10.17305/bjbms.2008.2935.

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Klinefelter Syndrome is the most frequent form of male hypogonadism. It is an endocrine disorder based on sex chromosome aneuploidy. Infertility and gynaecomastia are the two most common symptoms that lead to diagnosis. Diagnosis of Klinefelter syndrome is made by karyotyping. Over 20 years period (1985-2004) 124 patients have been sent to “Center for Human Genetics” of Faculty of Medicine in Sarajevo from different medical centres within Federation of Bosnia and Herzegovina with diagnosis suspecta Klinefelter syndrome, azoospermia, sterilitas primaria and hypogonadism for cytogenetic evaluation. Normal karyotype was found in 99 (79,8%) subjects, and karyotype was changed in 25 (20,2%) subjects. Polysomy X was found in 14 (11,3%) examinees. Polysomy X was expressed at the age of sexual maturity in the majority of the cases. Our results suggest that indication for chromosomal evaluation needs to be established at a very young age.

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19

Louden, Erica D., Alexandra Poch, Hyung-Goo Kim, Afif Ben-Mahmoud, Soo-Hyun Kim, and Lawrence C. Layman. "Genetics of hypogonadotropic Hypogonadism—Human and mouse genes, inheritance, oligogenicity, and genetic counseling." Molecular and Cellular Endocrinology 534 (August 2021): 111334. http://dx.doi.org/10.1016/j.mce.2021.111334.

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20

Dwyer, Andrew A., Niraj R. Chavan, Hilana Lewkowitz-Shpuntoff, Lacey Plummer, Frances J. Hayes, Stephanie B. Seminara, William F. Crowley, Nelly Pitteloud, and Ravikumar Balasubramanian. "Functional Hypogonadotropic Hypogonadism in Men: Underlying Neuroendocrine Mechanisms and Natural History." Journal of Clinical Endocrinology & Metabolism 104, no. 8 (March 11, 2019): 3403–14. http://dx.doi.org/10.1210/jc.2018-02697.

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Abstract Context After completion of puberty a subset of men experience functional hypogonadotropic hypogonadism (FHH) secondary to excessive exercise or weight loss. This phenomenon is akin to hypothalamic amenorrhea (HA) in women, yet little is known about FHH in men. Objective To investigate the neuroendocrine mechanisms, genetics, and natural history underlying FHH. Design Retrospective study in an academic medical center. Participants Healthy postpubertal men presenting with symptoms of hypogonadism in the setting of excessive exercise (>10 hours/week) or weight loss (>10% of body weight). Healthy age-matched men served as controls. Interventions Clinical assessment, biochemical and neuroendocrine profiling, body composition, semen analysis, and genetic evaluation of genes known to cause isolated GnRH deficiency. Main Outcome Measures Reproductive hormone levels, endogenous GnRH-induced LH pulse patterns, and rare genetic variants. Results Ten men with FHH were compared with 18 age-matched controls. Patients had significantly lower body mass index, testosterone, LH, and mean LH pulse amplitudes yet normal LH pulse frequency, serum FSH, and sperm counts. Some patients exhibited nocturnal, sleep-entrained LH pulses characteristic of early puberty, and one FHH subject showed a completely apulsatile LH secretion. After decreased exercise and weight gain, five men with men had normalized serum testosterone levels, and symptoms resolved. Rare missense variants in NSMF (n = 1) and CHD7 (n = 1) were identified in two men with FHH. Conclusions FHH is a rare, reversible form of male GnRH deficiency. LH pulse patterns in male FHH are similar to those observed in women with HA. This study expands the spectrum of GnRH deficiency disorders in men.

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21

Lenz, B., H. Frieling, J. Kornhuber, S. Bleich, and T. Hillemacher. "Genetics of the androgen receptor influences craving of men in alcohol withdrawal." European Psychiatry 26, S2 (March 2011): 73. http://dx.doi.org/10.1016/s0924-9338(11)71784-9.

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IntroductionThe clinical observation suggests a relation between alcoholism and dysregulation of the hypothalamus-pituitary-gonadal hormone axis. Chronic alcohol abuse leads to hypogonadism and sexual dysfunction. Testosterone and the genetics of the androgen receptor [AR] are related to impulsivity as well as appetite/hunger, both associated with addiction.AimsThis study investigated whether the length of a CAG trinucleotide repeat within the coding region of the AR is associated with alcoholism in general and whether it is linked to craving during withdrawal. Moreover, we concentrated on finding possible mediators of the observed effects.MethodsWe included 112 male inpatients who were admitted for detoxification treatment and who were compared to 50 age-matched controls. To measure the extent of craving we used the Obsessive Compulsive Drinking Scale (OCDS) on the day of hospital admission. For laboratory analysis we used whole blood (genetics) and serum (protein quantification).ResultsThe group of patients (21.6 ± 3.7 repeats) did not differ significantly from the control group (21.3 ± 3.3 repeats, p = 0.632) in terms of the number of CAG repeats. We found a significant negative correlation for the AR repeat length regarding OCDS-to (R2 = 0.053, p = 0.016) and OCDS-obs (R2 = 0.058, p = 0.011). Carrying out a path analysis of the mediating effect of leptin on the association between the number of CAG repeats of the AR and alcohol craving we found that direct effects (r = −0.144) accounted for 60% and indirect leptin-mediated effects (r = −0.096) for 40% of the total effect.ConclusionsToday, the impact of the sexual hormone axis seems to be underestimated in alcoholism.

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22

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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Cham, Grace, Brooke O'Brien, and Rebecca MN Kimble. "Idiopathic hypogonadotropic hypogonadism: a rare cause of primary amenorrhoea in adolescence—a review and update on diagnosis, management and advances in genetic understanding." BMJ Case Reports 14, no. 4 (April 2021): e239495. http://dx.doi.org/10.1136/bcr-2020-239495.

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Idiopathic hypogonadotropic hypogonadism (IHH) refers to a family of genetic disorders that affect the production and/or action of gonadotropic-releasing hormone, resulting in reduced serum levels of sex steroids. This condition has a prevalence of 1–10 cases/100 000 births and is characterised by the absence of spontaneous pubertal development. In women, the condition is characterised by the onset of normal adrenarche, with the absence of thelarche and menarche. Pubertal induction for breast development and uterine growth with oestradiol, and sequential maintenance of a normal menstrual cycle and adequate oestrogen for bone health, with an oestrogen and progesterone, is considered first-line treatment. Pregnancy can be achieved in patients who have received and responded to treatment with ovulation induction with exogenous gonadotrophins. Advances in genetic testing have led to increased research and understanding of the underlying genetics of IHH with gene mutations described in up to 50% of all IHH cases.

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Pitteloud, Nelly, Frances J. Hayes, Paul A. Boepple, Suzzunne DeCruz, Stephanie B. Seminara, David T. MacLaughlin, and William F. Crowley. "The Role of Prior Pubertal Development, Biochemical Markers of Testicular Maturation, and Genetics in Elucidating the Phenotypic Heterogeneity of Idiopathic Hypogonadotropic Hypogonadism." Journal of Clinical Endocrinology & Metabolism 87, no. 1 (January 2002): 152–60. http://dx.doi.org/10.1210/jcem.87.1.8131.

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25

Maione, Luigi, Andrew A. Dwyer, Bruno Francou, Anne Guiochon-Mantel, Nadine Binart, Jérôme Bouligand, and Jacques Young. "GENETICS IN ENDOCRINOLOGY: Genetic counseling for congenital hypogonadotropic hypogonadism and Kallmann syndrome: new challenges in the era of oligogenism and next-generation sequencing." European Journal of Endocrinology 178, no. 3 (March 2018): R55—R80. http://dx.doi.org/10.1530/eje-17-0749.

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Congenital hypogonadotropic hypogonadism (CHH) and Kallmann syndrome (KS) are rare, related diseases that prevent normal pubertal development and cause infertility in affected men and women. However, the infertility carries a good prognosis as increasing numbers of patients with CHH/KS are now able to have children through medically assisted procreation. These are genetic diseases that can be transmitted to patients’ offspring. Importantly, patients and their families should be informed of this risk and given genetic counseling. CHH and KS are phenotypically and genetically heterogeneous diseases in which the risk of transmission largely depends on the gene(s) responsible(s). Inheritance may be classically Mendelian yet more complex; oligogenic modes of transmission have also been described. The prevalence of oligogenicity has risen dramatically since the advent of massively parallel next-generation sequencing (NGS) in which tens, hundreds or thousands of genes are sequenced at the same time. NGS is medically and economically more efficient and more rapid than traditional Sanger sequencing and is increasingly being used in medical practice. Thus, it seems plausible that oligogenic forms of CHH/KS will be increasingly identified making genetic counseling even more complex. In this context, the main challenge will be to differentiate true oligogenism from situations when several rare variants that do not have a clear phenotypic effect are identified by chance. This review aims to summarize the genetics of CHH/KS and to discuss the challenges of oligogenic transmission and also its role in incomplete penetrance and variable expressivity in a perspective of genetic counseling.

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Butler, Merlin G., Jennifer L. Miller, and Janice L. Forster. "Prader-Willi Syndrome - Clinical Genetics, Diagnosis and Treatment Approaches: An Update." Current Pediatric Reviews 15, no. 4 (December 30, 2019): 207–44. http://dx.doi.org/10.2174/1573396315666190716120925.

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Background: Prader-Willi Syndrome (PWS) is a neurodevelopmental genomic imprinting disorder with lack of expression of genes inherited from the paternal chromosome 15q11-q13 region usually from paternal 15q11-q13 deletions (about 60%) or maternal uniparental disomy 15 or both 15s from the mother (about 35%). An imprinting center controls the expression of imprinted genes in the chromosome 15q11-q13 region. Key findings include infantile hypotonia, a poor suck, failure to thrive and hypogonadism/hypogenitalism. Short stature and small hands/feet due to growth and other hormone deficiencies, hyperphagia and marked obesity occur in early childhood, if uncontrolled. Cognitive and behavioral problems (tantrums, compulsions, compulsive skin picking) are common. Objective: Hyperphagia and obesity with related complications are major causes of morbidity and mortality in PWS. This report will describe an accurate diagnosis with determination of specific genetic subtypes, appropriate medical management and best practice treatment approaches. Methods and Results: An extensive literature review was undertaken related to genetics, clinical findings and laboratory testing, clinical and behavioral assessments and summary of updated health-related information addressing the importance of early PWS diagnosis and treatment. A searchable, bulleted and formatted list of topics is provided utilizing a Table of Contents approach for the clinical practitioner. Conclusions: Physicians and other health care providers can use this review with clinical, genetic and treatment summaries divided into sections pertinent in the context of clinical practice. Frequently asked questions by clinicians, families and other interested participants or providers will be addressed.

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Glazer, Clara Helene, Sandra Søgaard Tøttenborg, Aleksander Giwercman, Elvira Vaclavik Bräuner, Michael L. Eisenberg, Ditte Vassard, Melinda Magyari, Anja Pinborg, Lone Schmidt, and Jens Peter Bonde. "Male factor infertility and risk of multiple sclerosis: A register-based cohort study." Multiple Sclerosis Journal 24, no. 14 (October 13, 2017): 1835–42. http://dx.doi.org/10.1177/1352458517734069.

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Background: Gender, possibly due to the influence of gonadal hormones, is presumed to play a role in the pathogenesis of multiple sclerosis (MS), but no studies have evaluated whether male infertility is associated with MS. Objective: To study the association between male factor infertility and prevalent as well as incident MS. Method: Our cohort was established by linkage of the Danish National in vitro fertilization (IVF) registry to The Danish Multiple Sclerosis Registry and consisted of 51,063 men whose partners had undergone fertility treatment in all public and private fertility clinics in Denmark between 1994 and 2015. Results: With a median age of 34 years at baseline, 24,011 men were diagnosed with male factor infertility and 27,052 did not have male factor infertility and made up the reference group. Men diagnosed with male factor infertility had a higher risk of prevalent (odds ratio (OR) = 1.61, 95% confidence interval (95% CI) 1.04–2.51) and incident MS (hazard ratio (HR) = 1.28, 95% CI 0.76–2.17) when compared to the reference group. Conclusion: This nationwide cohort study has shown, for the first time, an association between male infertility and MS which may be due to underlying common etiologies such as hypogonadism, shared genetics, or a joint autoimmune component.

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Betterle, Corrado, Chiara Dal Pra, Franco Mantero, and Renato Zanchetta. "Autoimmune Adrenal Insufficiency and Autoimmune Polyendocrine Syndromes: Autoantibodies, Autoantigens, and Their Applicability in Diagnosis and Disease Prediction." Endocrine Reviews 23, no. 3 (June 1, 2002): 327–64. http://dx.doi.org/10.1210/edrv.23.3.0466.

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Abstract Recent progress in the understanding of autoimmune adrenal disease, including a detailed analysis of a group of patients with Addison’s disease (AD), has been reviewed. Criteria for defining an autoimmune disease and the main features of autoimmune AD (history, prevalence, etiology, histopathology, clinical and laboratory findings, cell-mediated andhumoral immunity, autoantigens and their autoepitopes, genetics, animal models, associated autoimmune diseases, pathogenesis, natural history, therapy) have been described. Furthermore, the autoimmune polyglandular syndromes (APS) associated with AD (revised classification, animal models, genetics, natural history) have been discussed. Of Italian patients with primary AD (n = 317), 83% had autoimmune AD. At the onset, all patients with autoimmune AD (100%) had detectable adrenal cortex and/or steroid 21-hydroxylase autoantibodies. In the course of natural history of autoimmune AD, the presence of adrenal cortex and/or steroid 21-hydroxylase autoantibodies identified patients at risk to develop AD. Different risks of progression to clinical AD were found in children and adults, and three stages of subclinical hypoadrenalism have been defined. Normal or atrophic adrenal glands have been demonstrated by imaging in patients with clinical or subclinical AD. Autoimmune AD presented in four forms: as APS type 1 (13% of the patients), APS type 2 (41%), APS type 4 (5%), and isolated AD (41%). There were differences in genetics, age at onset, prevalence of adrenal cortex/21-hydroxylase autoantibodies, and associated autoimmune diseases in these groups. “Incomplete” forms of APS have been identified demonstrating that APS are more prevalent than previously reported. A varied prevalence of hypergonadotropic hypogonadism in patients with AD and value of steroid-producing cells autoantibodies reactive with steroid 17α-hydroxylase or P450 side-chain cleavage enzyme as markers of this disease has been discussed. In addition, the prevalence, characteristic autoantigens, and autoantibodies of minor autoimmune diseases associated with AD have been described. Imaging of adrenal glands, genetic tests, and biochemical analysis have been shown to contribute to early and correct diagnosis of primary non-autoimmune AD in the cases of hypoadrenalism with undetectable adrenal autoantibodies. An original flow chart for the diagnosis of AD has been proposed.

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Stamou, M. I., K. H. Cox, and William F. Crowley. "Discovering Genes Essential to the Hypothalamic Regulation of Human Reproduction Using a Human Disease Model: Adjusting to Life in the “-Omics” Era." Endocrine Reviews 36, no. 6 (December 1, 2015): 603–21. http://dx.doi.org/10.1210/er.2015-1045.

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Abstract The neuroendocrine regulation of reproduction is an intricate process requiring the exquisite coordination of an assortment of cellular networks, all converging on the GnRH neurons. These neurons have a complex life history, migrating mainly from the olfactory placode into the hypothalamus, where GnRH is secreted and acts as the master regulator of the hypothalamic-pituitary-gonadal axis. Much of what we know about the biology of the GnRH neurons has been aided by discoveries made using the human disease model of isolated GnRH deficiency (IGD), a family of rare Mendelian disorders that share a common failure of secretion and/or action of GnRH causing hypogonadotropic hypogonadism. Over the last 30 years, research groups around the world have been investigating the genetic basis of IGD using different strategies based on complex cases that harbor structural abnormalities or single pleiotropic genes, endogamous pedigrees, candidate gene approaches as well as pathway gene analyses. Although such traditional approaches, based on well-validated tools, have been critical to establish the field, new strategies, such as next-generation sequencing, are now providing speed and robustness, but also revealing a surprising number of variants in known IGD genes in both patients and healthy controls. Thus, before the field moves forward with new genetic tools and continues discovery efforts, we must reassess what we know about IGD genetics and prepare to hold our work to a different standard. The purpose of this review is to: 1) look back at the strategies used to discover the “known” genes implicated in the rare forms of IGD; 2) examine the strengths and weaknesses of the methodologies used to validate genetic variation; 3) substantiate the role of known genes in the pathophysiology of the disease; and 4) project forward as we embark upon a widening use of these new and powerful technologies for gene discovery.

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Stamou, M. I., K. H. Cox, and William F. Crowley. "Discovering Genes Essential to the Hypothalamic Regulation of Human Reproduction Using a Human Disease Model: Adjusting to Life in the “-Omics” Era." Endocrine Reviews 2016, no. 1 (July 18, 2015): 4–22. http://dx.doi.org/10.1210/er.2015-1045.2016.1.

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Abstract The neuroendocrine regulation of reproduction is an intricate process requiring the exquisite coordination of an assortment of cellular networks, all converging on the GnRH neurons. These neurons have a complex life history, migrating mainly from the olfactory placode into the hypothalamus, where GnRH is secreted and acts as the master regulator of the hypothalamic-pituitary-gonadal axis. Much of what we know about the biology of the GnRH neurons has been aided by discoveries made using the human disease model of isolated GnRH deficiency (IGD), a family of rare Mendelian disorders that share a common failure of secretion and/or action of GnRH causing hypogonadotropic hypogonadism. Over the last 30 years, research groups around the world have been investigating the genetic basis of IGD using different strategies based on complex cases that harbor structural abnormalities or single pleiotropic genes, endogamous pedigrees, candidate gene approaches as well as pathway gene analyses. Although such traditional approaches, based on well-validated tools, have been critical to establish the field, new strategies, such as next-generation sequencing, are now providing speed and robustness, but also revealing a surprising number of variants in known IGD genes in both patients and healthy controls. Thus, before the field moves forward with new genetic tools and continues discovery efforts, we must reassess what we know about IGD genetics and prepare to hold our work to a different standard. The purpose of this review is to: 1) look back at the strategies used to discover the “known” genes implicated in the rare forms of IGD; 2) examine the strengths and weaknesses of the methodologies used to validate genetic variation; 3)substantiate the role of known genes in the pathophysiology of the disease; and 4) project forward as we embark upon a widening use of these new and powerful technologies for gene discovery. (Endocrine Reviews 36: 603–621, 2015)

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31

Wheeler, Patricia G., Charmian A. Quigley, Ab Sadeghi-Nejad, and David D. Weaver. "Hypogonadism and CHARGE association." American Journal of Medical Genetics 94, no. 3 (2000): 228–31. http://dx.doi.org/10.1002/1096-8628(20000918)94:3<228::aid-ajmg8>3.0.co;2-h.

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Robertson, Stephen P., Christine Rodda, and Agnes Bankier. "Hypogonadotrophic hypogonadism in Roifman syndrome." Clinical Genetics 57, no. 6 (June 2000): 435–38. http://dx.doi.org/10.1034/j.1399-0004.2000.570606.x.

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33

Jennings, Juliet E., Colm Costigan, and William Reardon. "Moebius sequence and hypogonadotrophic hypogonadism." American Journal of Medical Genetics 123A, no. 1 (October 6, 2003): 107–10. http://dx.doi.org/10.1002/ajmg.a.20500.

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34

Witt, David R., and Vazken M. Der Kaloustian. "Hypergonadotropic hypogonadism with congestive cardiomyopathy." American Journal of Medical Genetics 26, no. 4 (April 1987): 983–85. http://dx.doi.org/10.1002/ajmg.1320260429.

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35

Marcelli, Marco, and Sanjay Navin Mediwala. "Male hypogonadism: a review." Journal of Investigative Medicine 68, no. 2 (January 27, 2020): 335–56. http://dx.doi.org/10.1136/jim-2019-001233.

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This article contains a systematic review of the main developments that have occurred in the area of male hypogonadism between the publication of the Endocrine Society Guidelines of 2010 and 2018 and after 2018.

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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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37

Gursoy, Alptekin, Mustafa Sahin, Derun Taner Ertugrul, Zehra Berberoglu, Atilla Sezgin, Neslihan Bascil Tutuncu, and Nilgun Guvener Demirag. "Familial dilated cardiomyopathy hypergonadotrophic hypogonadism associated with thyroid hemiagenesis." American Journal of Medical Genetics Part A 140A, no. 8 (April 15, 2006): 895–96. http://dx.doi.org/10.1002/ajmg.a.31161.

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38

Zlotogora, J., J. Dagan, A. Ganen, M. Abu-Libdeh, Z. Ben-Neriah, and T. Cohen. "A syndrome including thumb malformations, microcephaly, short stature, and hypogonadism." Journal of Medical Genetics 34, no. 10 (October 1, 1997): 813–16. http://dx.doi.org/10.1136/jmg.34.10.813.

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39

Harbord, M. G., M. Baraitser, and J. Wilson. "Microcephaly, mental retardation, cataracts, and hypogonadism in sibs: Martsolf's syndrome." Journal of Medical Genetics 26, no. 6 (June 1, 1989): 397–400. http://dx.doi.org/10.1136/jmg.26.6.397.

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40

Skre, H., and K. Berg. "Linkage studies on the Marinesco-Sjøgren syndrome and hypergonadotropic hypogonadism." Clinical Genetics 11, no. 1 (April 23, 2008): 57–66. http://dx.doi.org/10.1111/j.1399-0004.1977.tb01279.x.

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Myhre, S. A., R. H. A. Ruvalcaba, and V. C. Kelley. "Congenital deafness and hypogonadism: a new X-linked recessive disorder." Clinical Genetics 22, no. 6 (April 23, 2008): 299–307. http://dx.doi.org/10.1111/j.1399-0004.1982.tb01843.x.

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42

Devriendt, Koenraad, Herman Berghe, and Jean-Pierre Fryns. "Alopecia-mental retardation syndrome associated with convulsions and hypergonadotropic hypogonadism." Clinical Genetics 49, no. 1 (April 23, 2008): 6–9. http://dx.doi.org/10.1111/j.1399-0004.1996.tb04316.x.

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43

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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44

Malouf, Joe, Samir Alam, Hassan Kanj, Amjad Mufarrij, and Vazken M. Der Kaloustian. "Hypergonadotropic hypogonadism with congestive cardiomyopathy: An autosomal-recessive disorder?" American Journal of Medical Genetics 20, no. 3 (March 1985): 483–89. http://dx.doi.org/10.1002/ajmg.1320200309.

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45

Layman, Lawrence C., David P. Cohen, Mei Jin, Jun Xie, Zhu Li, Richard H. Reindollar, Shahla Bolbolan, et al. "Mutations in gonadotropin-releasing hormone receptor gene cause hypogonadotropic hypogonadism." Nature Genetics 18, no. 1 (January 1998): 14–15. http://dx.doi.org/10.1038/ng0198-14.

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46

Richards, Mary R., Lacey Plummer, Yee-Ming Chan, Margaret F. Lippincott, Richard Quinton, Philip Kumanov, and Stephanie B. Seminara. "Phenotypic spectrum ofPOLR3Bmutations: isolated hypogonadotropic hypogonadism without neurological or dental anomalies." Journal of Medical Genetics 54, no. 1 (August 10, 2016): 19–25. http://dx.doi.org/10.1136/jmedgenet-2016-104064.

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47

Barton, James C., Edison Goncalves, Avni Santani, Balasundaram Chandra-Sekar, E. Carter Morris, Britton B. Carter, and Catherine A. Stolle. "Hypogonadotrophic hypogonadism due to intrasellar hemangioblastoma in von Hippel-Lindau syndrome." American Journal of Medical Genetics Part A 149A, no. 3 (March 2009): 549–51. http://dx.doi.org/10.1002/ajmg.a.32698.

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Morris, Guy C., Esther Lloyd-Evans, and David J. Cahill. "Induction of spermatogenesis in men with hypogonadotropic hypogonadism." Journal of Assisted Reproduction and Genetics 38, no. 4 (January 11, 2021): 803–7. http://dx.doi.org/10.1007/s10815-020-02058-0.

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Abstract Purpose We compared our clinical experience to international standards, assessed by response to treatment and pregnancy rates to ensure our results were comparable. Methods Men presenting with azoospermia related to hypogonadism were recruited into a treatment programme which was managed by one person over 8 years in a secondary care facility. Treatment followed published management plans using urinary gonadotropins. Data were collected on success rates in spermatogenesis, as well as variables which might predict success, and costs. Statistical analysis used non-parametric methods. Results Of 16 men with HH, 14 achieved spermatogenesis, and 9 had sperm cryopreserved. Of those 14, 6 were successful in achieving a pregnancy with their partner from assisted conception (including ICSI) and one after natural conception. Factors identified to identify men likely to be successful in treatment were whether testicular volume was larger at onset of gonadotropins (median 10 mL) with a trend towards greater success if the cause developed after puberty. Mean treatment costs per man treated amounted to GP£4379/UD$5377 (figures for September 2020). Summary Success rates from this treatment should exceed 70% in most clinical settings. The likelihood of success improves when testicular volume exceeded 10 mL at initiation of treatment and a trend exists whereby success is more likely whereby when hypogonadism developed after puberty. Treatment costs are at a level likely to benefit quality of life, supporting the delivery of this treatment and where necessary and possible, funding it in line with other fertility treatments. This treatment should be available much more widely as a management option for men with hypogonadism, allowing them to father a biological child, rather than using donor sperm.

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Limber, Ellen R., George H. Bresnick, Ruth M. Lebovitz, Richard E. Appen, Enid F. Gilbert-Barness, and Richard M. Pauli. "Spinocerebellar ataxia, hypogonadotropic hypogonadism, and choroidal dystrophy (Boucher-Neuhäuser syndrome." American Journal of Medical Genetics 33, no. 3 (July 1989): 409–14. http://dx.doi.org/10.1002/ajmg.1320330325.

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Kawai, Masahiko, Toru Momoi, Tatsuya Fujii, Shozo Nakano, Yasuko Itagaki, and Haruki Mikawa. "The syndrome of Möbius sequence, peripheral neuropathy, and hypogonadotropic hypogonadism." American Journal of Medical Genetics 37, no. 4 (December 1990): 578–82. http://dx.doi.org/10.1002/ajmg.1320370432.

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