Rare congenital disorder discovered in Delhi man seeking infertility treatment

A 26-year-old man from New Delhi sought infertility care at RG Hospitals, Rajouri Garden, and was discovered to have a rare congenital anomaly called Persistent Mullerian Duct Syndrome. Tests showed azoospermia, a 46,XY chromosome pattern, and MRI evidence of a uterus-like organ and fallopian-tube-resembling structures in the pelvis. Laparoscopic exploration revealed a small, underdeveloped uterus and both testes situated within the abdomen, each severely atrophied.

Surgeons, led by Dr Susheel Kharbanda, removed the Mullerian structures and the testes, citing the high cancer risk associated with long-standing undescended testes. Pathology identified Germ Cell Neoplasia In Situ in the left testis, a pre-cancerous condition, while tumor markers remained normal. The multidisciplinary team highlighted that normal tumor-marker levels do not exclude early oncogenic changes and emphasized comprehensive evaluation for infertility coupled with undescended testes.