Mullerian aplasia and hyperandrogenism

A disorder of sexual development characterized by primary amenorrhea, an underdeveloped or absent uterus, and clinical hyperandrogenism that has_material_basis_in heterozygous mutation in the WNT4 gene on chromosome 1p36.12.

Signs and symptoms

• Aplasia of the fallopian tube
• Unilateral renal agenesis
• Aplasia of the uterus
• Aplasia of the vagina
• Acne
• Increased circulating dehydroepiandrosterone-sulfate concentration
• Increased circulating androstenedione concentration
• Primary amenorrhea
• Hirsutism
• Abnormal external genitalia morphology

Also known as: Mullerian duct failure and hyperandrogenism; WNT4 deficiency