Journal
FERTILITY AND STERILITY
Volume 95, Issue 8, Pages 2683-2686Publisher
ELSEVIER SCIENCE INC
DOI: 10.1016/j.fertnstert.2011.01.152
Keywords
Wnt4; mullerian aplasia; atypical Mayer-Rokintansky-Kuster-Hauser syndrome; hyperandrogenism; steroidogenic enzymes regulation
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In a collaborative study, we investigated four 46, XX adolescent girls with Mayer-Rokitansky-Kuster-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 17 alpha- hydroxylase. (Fertil Steril (R) 2011;95:2683-6. (C) 2011 by American Society for Reproductive Medicine.)
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