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Article

Hypogonadotropic hypogonadism due to GnRH receptor mutation in a sibling.

Endokrynologia Polska - 1 Jan 2011

Fichna Piotr, Fichna Marta, Zurawek Magdalena, Nowak Jerzy

Abstract excerpt

Hypogonadotropic hypogonadism (HH) is characterised by delayed puberty and infertility. Congenital HH comprises Kallmann syndrome with hypo-/anosmia and idiopathic HH (IHH). The genetic origin remains unknown in most cases, but the defective GnRH receptor gene (GNRHR) accounts for a considerable proportion of IHH. Here we describe a pair of siblings diagnosed with IHH. Aged 17 years, the boy was referred because...

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Source

Identifiers

PMID: 21717411

Genes

IHH
GNRHR
IGF1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Idiopathic hypogonadotropic hypogonadism caused by compound heterozygosity for two novel mutations in the GNRH1 gene: a case report.Semantic proximity Read ↗

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