Does Excision of Mullerian Structures Jeopardize Testicular Growth and Function in Persistent Mullerian Duct Syndrome (PMDS): a Single Center Experience

Persistent Mullerian duct syndrome (PMDS) is a rare form of Disorders of Sexual Development (DSD) characterized by persistence of mullerian structures in a phenotypically and genotypically normal male. The most frequent clinical presentation is that of unilateral or bilateral cryptorchidism. Contrasting opinions exist among clinicians regarding the most suitable surgical intervention in this condition and the potential of fertility later. This study revisits PMDS in terms of varied modes of presentation and the optimum surgical approach to such patients. It, thus, attempts to throw light on the pattern of testicular growth and function within a reasonable follow-up time post-removal of mullerian structures and orchidopexy. The study was conducted in a tertiary health care center in North India. It was a retrospective study carried out by retrieving details of ten patients who had undergone treatment over a span of 9 years (January 2010 to January 2019). The clinical features, family history, surgery undertaken, and follow-up are hereby highlighted along with review of literature. Cryptorchidism was the most common presentation. Orchidopexy with excision of mullerian structures could be done in all except one. Testicular position, volume and vascularity, penile growth, and erection were assessed during subsequent visits at 3, 6, 12, and 24 months. All testes were descended with preserved and normal vascularity. Volumes were in normal range and all experienced good erection. Inference regarding fertility was not possible until conclusion of the study due to ongoing follow-up. Cryptorchidism is the most common presenting feature of PMDS. Familial involvement should be kept in mind. Orchidopexy should be the target surgery. Mullerian structures should be removed ensuring testicular viability. This, when performed carefully, ensures normal testicular maturation. However, long follow-ups will be required for conclusive evidence on fertility.