Persistent Mullerian Duct Syndrome in an Adult Infertile Male: A Case Report

Abstract

Persistent Müllerian duct syndrome is a rare autosomal recessive disorder of sex development characterized by the presence of Müllerian duct derived structures in a normally virilized, genotypical (46, XY) and phenotypical male. Here we describe a case of male partner of the couple who presented with primary subfertility and was diagnosed with persistent müllerian duct syndrome during investigations. Persistent Müllerian duct syndrome is a rare disease and in developing countries like Nepal, because of unaware of the disease condition and lack of proper health care facilities, such cases are diagnosed later in adult males. Therefore, this case highlights the importance of awareness and knowledge for early detection and treatment of such conditions to conserve fertility and prevent malignancy of testis and other remnant mullerian structures.