Persistent mullerian duct syndrome

Persistent Müllerian Duct Syndrome (PMDS) is a rare disorder of sexual development in males. It is characterized by the presence of female reproductive structures (the Müllerian duct derivatives) in an otherwise normally developed male.

Overview

PMDS is a form of pseudohermaphroditism, where an individual has both male and female internal sex organs. The condition is caused by mutations in the Anti-Müllerian hormone (AMH) gene or its receptor gene, leading to a failure of the Müllerian ducts to regress during fetal development. As a result, males with PMDS have a uterus and fallopian tubes in addition to their normal male reproductive organs.

Symptoms and Diagnosis

The most common symptom of PMDS is cryptorchidism, or undescended testes, which is often detected during infancy. Other symptoms may include hernias and issues with fertility later in life. Diagnosis is typically confirmed through genetic testing, which can identify mutations in the AMH or AMH receptor genes.

Treatment

Treatment for PMDS often involves surgery to remove the female reproductive structures, which can reduce the risk of developing testicular cancer. Hormone therapy may also be used to help the testes descend.

Epidemiology

PMDS is extremely rare, with fewer than 200 cases reported in the medical literature. It affects males exclusively, as the condition is linked to the Y chromosome.

See Also

• Disorders of sex development
• Intersex
• Pseudohermaphroditism

NIH genetic and rare disease info

• NIH info on Persistent mullerian duct syndrome

Persistent mullerian duct syndrome is a rare disease.

Persistent mullerian duct syndrome Resources
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