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Article

Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism.

The Journal of clinical investigation - 1 Feb 2007

Pitteloud Nelly, Quinton Richard, Pearce Simon, Raivio Taneli, Acierno James, Dwyer Andrew, Plummer Lacey, Hughes Virginia, Seminara Stephanie, Cheng Yu-Zhu, Li Wei-Ping, Maccoll Gavin, Eliseenkova Anna V, Olsen Shaun K, Ibrahimi Omar A, Hayes Frances J, Boepple Paul, Hall Janet E, Bouloux Pierre, Mohammadi Moosa, Crowley William

Abstract excerpt

Idiopathic hypogonadotropic hypogonadism (IHH) due to defects of gonadotropin-releasing hormone (GnRH) secretion and/or action is a developmental disorder of sexual maturation. To date, several single-gene defects have been implicated in the pathogenesis of IHH. However, significant inter- and intrafamilial variability and apparent incomplete penetrance in familial cases of IHH are difficult to reconcile with the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Receptor, Fibroblast Growth Factor, Type 1

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Source

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Identifiers

PMID: 17235395
DOI: 10.1172/JCI29884
PMCID: PMC1765517

Genes

IHH
FGFR1
GNRHR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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