Müllerian aplasia

A rare condition (OMIM:158330) characterised by agenesis of müllerian structures (vagina and uterus) and elevated serum androstenedione, dehydroepiandrosterone, and total and free testosterone.

Molecular pathology
Caused by defects of WNT4 which, with its cognate nuclear receptor, antagonise the testis-determining factor, controlling female development and preventing testes formation.

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