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Previous Volume 351:792-798 August 19, 2004 Number 8 Next

	Full Text PDF PDA Full Text PowerPoint Slide Set Perspective by Hughes, I. A. Add to Personal Archive Add to Citation Manager Notify a Friend E-mail When Cited E-mail When Letters Appear PubMed Citation

SUMMARY

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.

Source Information

From the Division of Pediatric Endocrinology and Diabetology, University Children's Hospital, Zurich, Switzerland.

Address reprint requests to Dr. Biason-Lauber at University Children's Hospital, Steinwiesstr. 75, CH-8032 Zurich, Switzerland, or at anna.lauber{at}kispi.unizh.ch.

Full Text of this Article

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