Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Müllerian aplasia and hyperandrogenism

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


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



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


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


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.

Update: Sept. 26, 2018