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Article

A homozygous mutation of GNRHR in a familial case diagnosed with polycystic ovary syndrome.

European journal of endocrinology - 1 May 2017

Caburet Sandrine, Fruchter Ronit Beck, Legois Bérangère, Fellous Marc, Shalev Stavit, Veitia Reiner A

Abstract excerpt

CONTEXT: PCOS is a heterogeneous condition characterized by hyperandrogenism and chronic anovulation and affects about 10% of women. Its etiology is poorly known, but a dysregulation of gonadotropin secretion is one of its hallmarks. OBJECTIVE: As the etiology of PCOS is unclear, we have performed a genome-wide analysis of a consanguineous family with three sisters diagnosed with PCOS. METHODS: Whole-exome...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28348023
DOI: 10.1530/EJE-16-0968

Genes

GNRHR

Variants

rs104893836

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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