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N Engl J Med. 2004 Aug 19;351(8):792-8.

A WNT4 mutation associated with Müllerian-duct regression and virilization in a 46,XX woman.

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1
Division of Pediatric Endocrinology and Diabetology, University Children's Hospital, Zurich, Switzerland. anna.lauber@kispi.unizh.ch

Abstract

WNT4, a secreted protein that suppresses male sexual differentiation, is thought to repress the biosynthesis of gonadal androgen in female mammals. An 18-year-old woman presented with primary amenorrhea and an absence of müllerian-derived structures, unilateral renal agenesis, and clinical signs of androgen excess--a phenotype resembling the Mayer-Rokitansky-Küster-Hauser syndrome and remarkably similar to that of female Wnt4-knockout mice. A genetic evaluation revealed a loss-of-function mutation in the WNT4 gene. WNT4 appears to be important in the development and maintenance of the female phenotype in women, by means of the regulation of müllerian-duct formation and control of ovarian steroidogenesis.

Comment in

PMID:
15317892
DOI:
10.1056/NEJMoa040533
[Indexed for MEDLINE]
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