Persistent Müllerian duct syndrome is a rare autosomal recessive disorder characterized by the presence of Müllerian structures (uterus, fallopian tubes, etc.) in phenotypically normal 46, XY males. It is mainly caused by mutations in the anti‑Müllerian hormone ( AMH ) gene or its type 2 receptor ( AMHR2 ) gene. Clinical manifestations often include cryptorchidism, inguinal hernia, or transverse testicular ectopia. Because Müllerian structures share a close blood supply with the Wolffian structures (e.g., vas deferens), surgical excision may compromise fertility, making diagnosis and management particularly delicate. Currently, about 88% of patients are known to carry mutations in AMH or AMHR2 , and novel mutations continue to be discovered, providing important insights for diagnosis and genetic counseling.
Through detailed clinical evaluation and genetic analysis of a 4-month-old male infant, Jeffrey T. White et al. from the University of Louisville School of Medicine explored the diagnostic and therapeutic strategy for PMDS with transverse testicular ectopia. The infant presented with left cryptorchidism and two palpable testes in the right hemiscrotum; imaging suggested transverse testicular ectopia. Laparoscopic exploration revealed bilateral testes along with hypoplastic Müllerian structures including a uterus and fallopian tubes. Intraoperative testicular biopsy was performed, and the Müllerian structures were preserved. Both testes were eventually fixed within the scrotum. Postoperative pathology ruled out disorders of sexual development and malignancy. Genetic testing identified two novel AMHR2 mutations: c.322A>C (maternal) and c.658G>C (paternal).
This case suggests that fertility‑preserving surgical strategies should be prioritized in such patients, while also expanding the mutational spectrum of PMDS. The work titled “ AMHR2 mutation in persistent Müllerian duct syndrome: A case of transverse testicular ectopia”, was published on UroPrecision (published on December 30, 2025).
UroPrecision
Experimental study
Not applicable
AMHR2 mutation in persistent Müllerian duct syndrome: A case of transverse testicular ectopia
30-Dec-2025