Persistent mullerian duct syndrome (PMDS) is a disorder of sexual development (DSD) affecting males, who have normal male reproductive organs, but also the inclusion of a uterus and fallopian tubes, and sometimes the upper portion of the vagina.
These organs are derived from the Müllerian ducts that usually break down quite early in the process of a male foetus developing. Those with persistent mullerian duct syndrome have normal male chromosomes (46 XY) and normal male genitalia.
The cause of PMDS is a lack of anti-mullerian hormone (AMH) in the foetus due to genetic mutations of the gene for AMH or the anti-mullerian hormone receptor, or an insensitivity to AMH of the ducts.
Symptoms of persistent mullerian duct syndrome
- Undescended testes (one or both)
- Inguinal hernias
- Infertility
- Blood in the semen
Treatments for PMDS
Treatments include surgery to pull the testes into place in the scrotum and to remove the extra organs.
In people with PMDS with unretrievable testes, who identify as male, testosterone replacement may be required at puberty. Improving chances of fertility is an important focus of treatments.
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