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WNT4 and sex development


Biason-Lauber, A; Konrad, D (2008). WNT4 and sex development. Sexual Development, 2(4-5):210-218.

Abstract

Although factors involved in male sexual differentiation have been well studied, the pathways regulating female sexual differentiation remain incompletely defined. To date, no genes have been identified to play a similar role in ovarian development as was shown for the SRY or SOX9 genes in testicular development. In mice, Wnt4 regulates the development of the female reproductive tract, antagonizes the production of testosterone, and is important for oocyte development. The recent demonstration of heterozygous WNT4 defects in patients with Mullerian agenesis and signs of ovarian hyperandrogenism added WNT4 to the growing list of genes such as SRY, SOX9, WT1, DAX1, and SF-1 contributing to human sexual development. In particular, WNT4 was the first human gene to be identified to direct development of the bipotential gonad towards ovaries. From a more clinical point of view, it seems that the absence of a uterus (and not other Müllerian abnormalities) and the androgen excess are the pathognomonic signs of WNT4 defects, suggesting that WNT4 deficiency might be a clinical entity distinct from the typical Mayer-Rokitansky-Kuster-Hauser syndrome.

Although factors involved in male sexual differentiation have been well studied, the pathways regulating female sexual differentiation remain incompletely defined. To date, no genes have been identified to play a similar role in ovarian development as was shown for the SRY or SOX9 genes in testicular development. In mice, Wnt4 regulates the development of the female reproductive tract, antagonizes the production of testosterone, and is important for oocyte development. The recent demonstration of heterozygous WNT4 defects in patients with Mullerian agenesis and signs of ovarian hyperandrogenism added WNT4 to the growing list of genes such as SRY, SOX9, WT1, DAX1, and SF-1 contributing to human sexual development. In particular, WNT4 was the first human gene to be identified to direct development of the bipotential gonad towards ovaries. From a more clinical point of view, it seems that the absence of a uterus (and not other Müllerian abnormalities) and the androgen excess are the pathognomonic signs of WNT4 defects, suggesting that WNT4 deficiency might be a clinical entity distinct from the typical Mayer-Rokitansky-Kuster-Hauser syndrome.

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21 citations in Web of Science®
28 citations in Scopus®
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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > University Children's Hospital Zurich > Medical Clinic
Dewey Decimal Classification:610 Medicine & health
Date:2008
Deposited On:11 Feb 2009 16:54
Last Modified:07 Jul 2016 08:05
Publisher:Karger
ISSN:1661-5425
Publisher DOI:10.1159/000152037
PubMed ID:18987495
Permanent URL: http://doi.org/10.5167/uzh-5508

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