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Molecular analysis of WNT4 gene in four adolescent girls with mullerian duct abnormality and hyperandrogenism (atypical Mayer-Rokitansky-Küster-Hauser syndrome).

Fertility and sterility - 30 Jun 2011

Philibert Pascal, Biason-Lauber Anna, Gueorguieva Iva, Stuckens Chantal, Pienkowski Catherine, Lebon-Labich Béatrice, Paris Françoise, Sultan Charles

Abstract excerpt

In a collaborative study, we investigated four 46,XX adolescent girls with Mayer-Rokitansky-Küster-Hauser syndrome and hyperandrogenism. Molecular analysis of the WNT4 gene permitted us to identify a new mutation (p.A233T). Functional studies revealed partial repression of steroidogenic enzymes (normal repression of HSD3B2) contrasting with the abnormal reexpression of CYP17A1 enzyme in the OVCAR3 cell line. This...

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Source

Identifiers

PMID: 21377155
DOI: 10.1016/j.fertnstert.2011.01.152

Genes

WNT4

Variants

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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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