Molecular analysis of WNT4 gene in four adolescent girls with mullerian duct abnormality and hyperandrogenism (atypical Mayer-Rokitansky-Küster-Hauser syndrome).
Fertil Steril
; 95(8): 2683-6, 2011 Jun 30.
Article
em En
| MEDLINE
| ID: mdl-21377155
ABSTRACT
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 fourth new WNT4 mutation confirms that this signaling molecule is involved in mullerian development and androgen biosynthesis repression in the ovary. Interestingly, this mutant partially lacks the capability to repress ovarian steroidogenic enzymes, with abnormal expression of 17α- hydroxylase.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Ovário
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Análise Mutacional de DNA
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Hiperandrogenismo
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Proteínas Wnt
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Ductos Paramesonéfricos
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Mutação
Tipo de estudo:
Prognostic_studies
Idioma:
En
Revista:
Fertil Steril
Ano de publicação:
2011
Tipo de documento:
Article
País de afiliação:
França