Persistent Mullerian Duct Syndrome Caused by a Novel Mutation of an Anti-Mullerian Hormone Receptor Gene: Case Presentation and Literature Review

Persistent Mullerian duct syndrome (PMDS) is a rare genetic disorder of male internal sexual development defined as lack of regression of Mullerian derivatives in the 46XY male with normally virilized external genitalia and unilateral or bilateral cryptorchidism. Approximately 85% of all cases are caused by mutations in genes encoding anti-Mullerian hormone (AMH) or its receptor (AMHR2) with autosomal recessive transmission. This condition is frequently diagnosed incidentally, during surgical repair of inguinal hernia or cryptorchidism. There is no consensus on surgical approach: malignancy risk in the Mullerian duct remnant or undescended testis encourages early removal of the former and bilateral orchiopexy; however, removal of Mullerian structures can impair testicular and vas deferens blood supply, potentially causing infertility. Herein, we report on a male infant with PMDS caused by a novel homozygous missense mutation in AMHR2 (c.928C>T; p.Q310X), review the literature, and discuss the diverse clinical and surgical approaches to this condition.