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Article

Molecular defects of the GnRH-receptor gene in Chinese patients with idiopathic hypogonadotropic hypogonadism and the severity of hypogonadism.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Jan 2012

Fathi Aws K, Hu Sicui, Fu Xi, Huang Shan, Liang Yan, Ning Qin, Luo Xiaoping

Abstract excerpt

BACKGROUND: Human mutations in the gonadotropin-releasing hormone receptor (GnRHR) gene cause normosmic idiopathic hypogonadotropic hypogonadism (IHH). At least 19 different mutations have been identified in this G-protein-coupled receptor, which consist mostly of missense mutations. OBJECTIVES:...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23155690
DOI: 10.1515/jpem-2012-0087

Genes

IHH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23155690-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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