This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
Persistent Müllerian duct syndrome (PMDS) is affects the development of the sexual organs in males. Males with PMDS have normal testes and normal male external genitals. However, they also have a uterus and fallopian tubes (female reproductive organs). Early signs of PMDS may include undescended testes (cryptorchidism) or inguinal hernias. The uterus and fallopian tubes are found by accident during surgery to treat these conditions. Other features of PMDS may include infertility and an increased risk for testicular cancer. PMDS occurs due to genetic variants in either the AMH gene (PMDS type 1) or AMHR2 gene (PMDS type 2). It is inherited in an autosomal recessive pattern. In some cases, the genetic cause is unknown. Diagnosis of PMDS is based on the symptoms, clinical exam, and imaging studies. The results of genetic testing may also be helpful for diagnosis. Treatment usually involves surgery to correct the undescended testes or inguinal hernia.
For more information, visit GARD.