A 26-year-old man seeking infertility treatment discovered a rare congenital condition (File pic)
NEW DELHI: A 26-year-old man who approached RG Hospitals in Rajouri Garden for infertility treatment was found to have a uterus and fallopian-tube-like structures inside his body, revealing a rare congenital condition that had remained undiagnosed until adulthood, news agency ANI reported. Genetic testing showed a 46,XY chromosome pattern, leading doctors to suspect Persistent Mullerian Duct Syndrome (PMDS), a rare congenital condition in which Mullerian structures such as the uterus and fallopian tubes persist in a person with typically male chromosomes and physical development. Because undescended testes carry a higher risk of testicular cancer, “The testes were also severely atrophied, which was an important concern. We therefore had to approach the surgery carefully, taking into account both the unusual anatomy and the long-term health risks,” he said.
RG Hospitals said the case was managed through a multidisciplinary approach involving urology, radiology, pathology, reproductive medicine and endocrinology. The man was seeking treatment for primary infertility and was found to have azoospermia, or absence of sperm in semen. Doctors also found that both his testes were undescended. Further evaluation, including imaging and genetic testing, was carried out to determine the underlying cause. An MRI scan showed a uterus-like structure in the pelvis along with structures resembling fallopian tubes. Doctors subsequently removed the Mullerian structures and both testes through laparoscopic surgery, considering the patient’s age, long-standing undescended testes, severe testicular damage and increased risk of testicular cancer. The surgery was performed by Dr Susheel Kharbanda, chief urologist at RG Hospitals, Rajouri Garden. The team used imaging, genetic evaluation, minimally invasive surgery and histopathology to diagnose the condition and address the associated oncological risk.