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Müllerian aplasia and hyperandrogenism

Müllerian aplasia and hyperandrogenism is an autosomal dominant disorder caused by mutations of the WNT4 gene.

Systematic

Disorders of sex development
Congenital hypogonadotropic hypogonadism with anosmia 1
Congenital hypogonadotropic hypogonadism without anosmia 4
Congenital hypogonadotropic hypogonadism without anosmia 5
Denys-Drash syndrome
Hypogonadotropic hypogonadism 6 with or without anosmia
Müllerian aplasia and hyperandrogenism
WNT4
SERKAL syndrome

References:

1.

Biason-Lauber A et al. (2004) A WNT4 mutation associated with Müllerian-duct regression and virilization in a 46,XX woman.

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2.

Biason-Lauber A et al. (2007) WNT4 deficiency--a clinical phenotype distinct from the classic Mayer-Rokitansky-Kuster-Hauser syndrome: a case report.

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3.

Philibert P et al. (2008) Identification and functional analysis of a new WNT4 gene mutation among 28 adolescent girls with primary amenorrhea and müllerian duct abnormalities: a French collaborative study.

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4.

Orphanet article

Orphanet ID 247768 external link
5.

OMIM.ORG article

Omim 158330 external link
6.

Wikipedia article

Wikipedia EN (WNT4_deficiency) external link
Update: Aug. 14, 2020
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