ArticleThe Journal of clinical endocrinology and metabolism2015
A shared genetic basis for self-limited delayed puberty and idiopathic hypogonadotropic hypogonadism.
Article in The Journal of clinical endocrinology and metabolism, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 53 papers, 1 of them a synthesis that pooled it.
What it found
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
53 citing papers in PubMed, 1 synthesis or guideline pooled it, 113 citations in OpenAlex.
- Reversal of Congenital Hypogonadotropic Hypogonadism.The Journal of clinical endocrinology and metabolism · 2026Pooled it
- Genetics of Idiopathic Hypogonadotropic HypogonadismJournal of clinical research in pediatric endocrinology · 2026Review
- Familial, constitutional, and combined idiopathic short stature: longitudinal growth patterns and pubertal effects.Frontiers in pediatrics · 2026Article
- Neurotrophic Control of Puberty: From Molecular Signaling to Disorders of Pubertal Timing.Current issues in molecular biology · 2025Review
- Deleterious variants in intolerant genes reveal new candidates for self-limited delayed puberty.European journal of endocrinology · 2025Article
- Contributions of Common Genetic Variants to Constitutional Delay of Puberty and Idiopathic Hypogonadotropic Hypogonadism.The Journal of clinical endocrinology and metabolism · 2024Article
- Lack of a genetic risk continuum between pubertal timing in the general population and idiopathic hypogonadotropic hypogonadism.Journal of neuroendocrinology · 2024Article
- Additional mutation inBMJ case reports · 2024Article
- High Population Frequency ofJournal of the Endocrine Society · 2024Article
- Prevalence of Deleterious Variants in MC3R in Patients With Constitutional Delay of Growth and Puberty.The Journal of clinical endocrinology and metabolism · 2023Article
- Article
- Isolated anterior pituitary dysfunction in adulthood.Frontiers in endocrinology · 2023Review
- Genetics of pubertal delay.Clinical endocrinology · 2022Review
- Article
- Review of human genetic and clinical studies directly relevant to GnRH signalling.Journal of neuroendocrinology · 2022Review
- Current clinical management of constitutional delay of growth and puberty.Italian journal of pediatrics · 2022Review
- Genetic architecture of self-limited delayed puberty and congenital hypogonadotropic hypogonadism.Frontiers in endocrinology · 2022Review
- Genetic, epigenetic and enviromental influencing factors on the regulation of precocious and delayed puberty.Frontiers in endocrinology · 2022Review
- Correlation Analysis of Genotypes and Phenotypes in Chinese Male Pediatric Patients With Congenital Hypogonadotropic Hypogonadism.Frontiers in endocrinology · 2022Article
- Whole exome sequencing identifies deleterious rare variants in CCDC141 in familial self-limited delayed puberty.NPJ genomic medicine · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 4 institutions in 2 countries.
Funding
Abstract
contextDelayed puberty (DP) is a common issue and, in the absence of an underlying condition, is typically self limited. Alhough DP seems to be heritable, no specific genetic cause for DP has yet been reported. In contrast, many genetic causes have been found for idiopathic hypogonadotropic hypogonadism (IHH), a rare disorder characterized by absent or stalled pubertal development.
objectiveThe objective of this retrospective study, conducted at academic medical centers, was to determine whether variants in IHH genes contribute to the pathogenesis of DP. SUBJECTS AND OUTCOME MEASURES: Potentially pathogenic variants in IHH genes were identified in two cohorts: 1) DP family members of an IHH proband previously found to have a variant in an IHH gene, with unaffected family members serving as controls, and 2) DP individuals with no family history of IHH, with ethnically matched control subjects drawn from the Exome Aggregation Consortium.
resultsIn pedigrees with an IHH proband, the proband's variant was shared by 53% (10/19) of DP family members vs 12% (4/33) of unaffected family members (P = .003). In DP subjects with no family history of IHH, 14% (8/56) had potentially pathogenic variants in IHH genes vs 5.6% (1 907/33 855) of controls (P = .01). Potentially pathogenic variants were found in multiple DP subjects for the genes IL17RD and TAC3.
conclusionsThese findings suggest that variants in IHH genes can contribute to the pathogenesis of self-limited DP. Thus, at least in some cases, self-limited DP shares an underlying pathophysiology with IHH.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.