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Article

Isolated hypogonadotropic hypogonadism with SOX2 mutation and anophthalmia/microphthalmia in offspring.

European journal of human genetics : EJHG - 1 Jul 2011

Stark Zornitza, Storen Rebecca, Bennetts Bruce, Savarirayan Ravi, Jamieson Robyn V

Abstract excerpt

Isolated hypogonadotropic hypogonadism (IHH) is a genetically heterogeneous condition in which patients frequently require assisted reproduction to achieve fertility. In patients with IHH who are otherwise well, no particular increased risk of congenital anomalies in the resultant offspring has been highlighted. Heterozygous mutations in SOX2 are the commonest single-gene cause of anophthalmia/microphthalmia...

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Source

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Identifiers

PMID: 21326281
DOI: 10.1038/ejhg.2011.11
PMCID: PMC3137491

Genes

IHH
SOX2

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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