ArticleJournal of clinical research in pediatric endocrinology2012
Distribution of gene mutations associated with familial normosmic idiopathic hypogonadotropic hypogonadism.
Article in Journal of clinical research in pediatric endocrinology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it, 31 citations in OpenAlex.
- Regional genotypic variations in normosmic congenital hypogonadotropic hypogonadism: our experience and systematic review.Pituitary · 2022Pooled it
- Genetics of Idiopathic Hypogonadotropic HypogonadismJournal of clinical research in pediatric endocrinology · 2026Review
- Clinical Characterization and Underlying Genetic Findings in Brazilian Patients with Syndromic Microcephaly Associated with Neurodevelopmental Disorders.Molecular neurobiology · 2024Article
- Gonadotropin-Releasing Hormone Receptor (GnRHR) and Hypogonadotropic Hypogonadism.International journal of molecular sciences · 2023Review
- Advances in clinical applications of kisspeptin-GnRH pathway in female reproduction.Reproductive biology and endocrinology : RB&E · 2022Review
- Review of human genetic and clinical studies directly relevant to GnRH signalling.Journal of neuroendocrinology · 2022Review
- [Clinical and molecular genetic features of cases of isolated hypogonadotropic hypogonadism, associated with defects inProblemy endokrinologii · 2021Article
- 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 · 2021Article
- Molecular genetic diagnostics of hypogonadotropic hypogonadism: from panel design towards result interpretation in clinical practice.Human genetics · 2021Review
- Next-generation sequencing refines the genetic architecture of Greek GnRH-deficient patients.Endocrine connections · 2019Article
- Update on the Genetics of Idiopathic Hypogonadotropic Hypogonadism.Journal of clinical research in pediatric endocrinology · 2017Review
- Isolated GNRH deficiency: genotypic and phenotypic characteristics of the genetically heterogeneous Greek population.European journal of endocrinology · 2017Article
- Mutations in gonadotropin-releasing hormone signaling pathway in two nIHH patients with successful pregnancy outcomes.Reproductive biology and endocrinology : RB&E · 2016Article
- Withdrawn: Discovering Genes Essential to the Hypothalamic Regulation of Human Reproduction Using a Human Disease Model: Adjusting to Life in the "-Omics" Era.Endocrine reviews · 2016Review
- Discovering Genes Essential to the Hypothalamic Regulation of Human Reproduction Using a Human Disease Model: Adjusting to Life in the "-Omics" Era.Endocrine reviews · 2015Review
- A shared genetic basis for self-limited delayed puberty and idiopathic hypogonadotropic hypogonadism.The Journal of clinical endocrinology and metabolism · 2015Article
- Clinical, endocrinological, and molecular characterization of Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: a single center experience.Annals of pediatric endocrinology & metabolism · 2015Article
- Mutations in KISS1 are not responsible for idiopathic hypogonadotropic hypogonadism in Chinese patients.Journal of assisted reproduction and genetics · 2015Article
- Role of gonadotropin-releasing hormone receptor mutations in patients with a wide spectrum of pubertal delay.Fertility and sterility · 2014Article
- Etiological evaluation of patients presenting with isolated micropenis to an academic health care center.Indian journal of pediatrics · 2014Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
21 authors at 9 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveNormosmic idiopathic hypogonadotropic hypogonadism (nIHH) is characterized by failure of initiation or maintenance of puberty due to insufficient gonadotropin release, which is not associated with anosmia/hyposmia. The objective of this study was to determine the distribution of causative mutations in a hereditary form of nIHH.
methodsIn this prospective collaborative study, 22 families with more than one affected individual (i.e. multiplex families) with nIHH were recruited and screened for genes known or suspected to be strong candidates for nIHH.
resultsMutations were identified in five genes (GNRHR, TACR3, TAC3, KISS1R, and KISS1) in 77% of families with autosomal recessively inherited nIHH. GNRHR and TACR3 mutations were the most common two causative mutations occurring with about equal frequency.
conclusionsMutations in these five genes account for about three quarters of the causative mutations in nIHH families with more than one affected individual. This frequency is significantly greater than the previously reported rates in all inclusive (familial plus sporadic) cohorts. GNRHR and TACR3 should be the first two genes to be screened for diagnostic purposes. Identification of causative mutations in the remaining families will shed light on the regulation of puberty.
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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.