Understanding sexual differentiation: A case series on persistent Mullerian duct syndrome

Introduction: Persistent Mullerian duct syndrome (PMDS) is a rare form of sexual differentiation, where the failure to produce functional anti-Mullerian hormone (AMH) or a defective type II AMH receptor (AMHRII) leads to the persistence of Mullerian ducts in otherwise normal males. Materials and Methods: Cytogenetic testing was done on lymphocyte cultures from samples of peripheral blood. G-banding was done, and cultures were analyzed using the Ikaros software to visualize metaphase chromosomes and reported as per the International System for Human Cytogenetic Nomenclature. Results: A series of eight patients with PMDS with 46 XY on karyotyping were identified between 2001 and 2016 from 22 days to 24 years of age. PMDS was diagnosed incidentally through clinical pointers such as inguinal hernia ( n = 5, 62.5%) and undescended testes ( n = 5, 62.5%). Male type II ( n = 4, 50%) was the most common morphological type. Two of the older patients aged 4 and 24 years had intra-tubular germ cell neoplasia and mixed germ cell tumor, respectively. Conclusion: Knowledge of the presenting features, morphology, and histopathology of PMDS enables a better understanding of the intricacies of normal and abnormal sexual differentiation.