ReviewJournal of clinical research in pediatric endocrinology2017
Update on the Genetics of Idiopathic Hypogonadotropic Hypogonadism.
Review in Journal of clinical research in pediatric endocrinology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 64 papers.
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Who cites it
64 citing papers in PubMed.
- Jacobs Syndrome Presenting With Delayed Puberty and Central Hypogonadism: A Rare Case Report.Clinical case reports · 2026Article
- Genetics of Idiopathic Hypogonadotropic HypogonadismJournal of clinical research in pediatric endocrinology · 2026Review
- Identification and Functional Characterization of a Novel SEMA3A Exon Deletion Variant in Kallmann Syndrome.Molecular genetics & genomic medicine · 2026Article
- Therapeutic effects of a pulsatile GnRH pump on adult male patients with congenital hypogonadotropic hypogonadism (CHH): a retrospective study.Translational andrology and urology · 2025Article
- Magnetic resonance imaging does not distinguish Kallmann syndrome from normosmic isolated hypogonadotropic hypogonadism.Endocrine connections · 2025Article
- A Current Perspective on Delayed Puberty and Its ManagementJournal of clinical research in pediatric endocrinology · 2024Review
- Age, sex, and cell type-resolved hypothalamic gene expression across the pubertal transition in mice.Biology of sex differences · 2024Article
- High Population Frequency ofJournal of the Endocrine Society · 2024Article
- [Research progress on hereditary endocrine and metabolic diseases associated with sensorineural hearing loss].Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2024Article
- How human genetic context can inform pathogenicity classification: FGFR1 variation in idiopathic hypogonadotropic hypogonadism.Human genetics · 2023Article
- Idiopathic hypogonadotropic hypogonadism caused by compound heterozygosity for two novel mutations in the GNRH1 gene: a case report.BMC endocrine disorders · 2023Article
- Clinical characteristics and genetic expansion of 46,XY disorders of sex development children in a Chinese prospective study.Endocrine connections · 2023Article
- Clinical and molecular features of 40 Chinese patients with idiopathic hypogonadotropic hypogonadism.Translational andrology and urology · 2023Article
- A case of novel mutation in ANOS1 (KAL1) gene and review of Kallmann syndrome.Endocrinology, diabetes & metabolism case reports · 2023Article
- Clinical Characteristics and Genetic Analyses of Patients with Idiopathic Hypogonadotropic HypogonadismJournal of clinical research in pediatric endocrinology · 2023Article
- Hypergonadotropic hypogonadism and chromosomal aberrations: clinical heterogeneity and implications on the health of elderly men, case series.BMC endocrine disorders · 2023Article
- Prenatally detected six duplications at Xp22.33-p11.22: a case report.BMC pregnancy and childbirth · 2023Article
- Phenotypic and genotypic landscape of PROKR2 in neuroendocrine disorders.Frontiers in endocrinology · 2023Review
- Clinical and Biochemical Characteristics of Male Idiopathic Hypogonadotropic Hypogonadism Patients: A Retrospective Cross Sectional Study.International journal of fertility & sterility · 2023Article
- 46,XY disorders of sex development: the use of NGS for prevalent variants.Human genetics · 2022Article
4 more citing papers are in PubMed but not listed here.
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Abstract
Traditionally, idiopathic hypogonadotropic hypogonadism (IHH) is divided into two major categories: Kallmann syndrome (KS) and normosmic IHH (nIHH). To date, inactivating variants in more than 50 genes have been reported to cause IHH. These mutations are estimated to account for up to 50% of all apparently hereditary cases. Identification of further causative gene mutations is expected to be more feasible with the increasing use of whole exome/genome sequencing. Presence of more than one IHH-associated mutant gene in a given patient/pedigree (oligogenic inheritance) is seen in 10-20% of all IHH cases. It is now well established that about 10-20% of IHH cases recover from IHH either spontaneously or after receiving some sex steroid replacement therapy. Moreover, there may be an overlap or transition between constitutional delay in growth and puberty (CDGP) and IHH. It has been increasingly observed that oligogenic inheritance and clinical recovery complicates the phenotype/genotype relationship in IHH, thus making it challenging to find new IHH-associated genes. In a clinical sense, recognizing those IHH genes and associated phenotypes may improve our diagnostic capabilities by enabling us to prioritize the screening of particular gene(s) such as synkinesia (ANOS1), dental agenesis (FGF8/FGFR1) and hearing loss (CHD7). Also, IHH-associated gene studies may be translated into new therapies such as for polycystic ovary syndrome. In a scientific sense, the most significant contribution of IHH-associated gene studies has been the characterization of the long-sought gonadotropin releasing hormone pulse generator. It appears that genetic studies of IHH will continue to advance our knowledge in both the biological and clinical domains.
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