Persistent Mullerian duct syndrome: A case report and review of the literature

Abstract

Persistent Mullerian duct syndrome is a rare form of internal male pseudohermaphroditism, in which Mullerian duct derivatives (uterus and fallopian tubes) are present in a genotypic (46XY) and phenotypic male. Over 150 cases have been reported, mainly from outside the African setting. This article presents an unexpected case encountered in an African setting. Handicaps in the management were unavailability of necessary diagnostic tools as well as lack of finance to assess those available. Although a diagnosis was eventually arrived at and the parents thoroughly counseled, the patient has not represented for definitive surgery.

Two heterozygous mutations of the AMH gene in a Japanese patient with persistent Müllerian duct syndrome

“…In addition, PMDS has been reported in association with transverse testicular ectopia, a rare anomaly in which the testis is seen in the contralateral inguinal canal or in the hemiscrotum (1,2,13,14) . Among these phenotypes of PMDS, unilateral cryptorchidism is most common, and only about 10% of patient with PMDS have bilateral undescended testes located in an area analogous to the ovaries in women (13,14) . This was the case in our patient.…”

A Rare Presentation of Germ Cell Neoplasia: Persistant Müllerian Duct Syndrome

“…However, special care for meticulous dissection should be given to preserve vascular supply of the vas deferens, especially in pediatric patients. Though virilization is not affected in PMDS, most patients are azospermic (10). However, there are a few individuals who have children (3).…”

Persistent Mullerian Duct Syndrome with Transverse Testicular Ectopia: Rare Entity

“…Mullerian derivatives (i.e. fallopian tubes, uterus, upper part of the vagina) are present in otherwise normally virilized XY patients, with both the testes to one side [3]. PMDS is a rare condition, with only about 150 cases being described in the literature.…”