Surgical assessment in Persistent Mullerian Duct Syndrome (PMDS) with intra-abdominal testes: A case report

Abstract

Germana Casaccia*, Lorenzo Giacometti and Andrea Secco

Background: In a male foetus at 8 weeks’ gestation, testicular sertoli cells produce Anti-Müllerian Hormone (AMH) also known as Müllerian Inhibiting Substance (MIS). It plays a rule in the migration of testes in the scrotum and leads to regression of the Mullerian ducts, which typically differentiate into Fallopian tubes, uterus and upper vagina in a female foetus. The Persistent Mullerian Duct Syndrome (PMDS), due to AMH or AMH receptor defect, is a rare condition characterized by cryptorchidism and rudimentary internal female genitalia in otherwise normally masculinized 46 XY male. Herein the author reports a pediatric case of PMDS with bilateral intra-abdominal testes, focusing on the correct diagnosis and a rational stepwise surgical treatment. At last follow up, the twelve years old patient presents bilateral healthy scrotal testes with no Mullerian ducts remnants and hormonal dysfunction.