Delhi doctors discover uterus inside 26-year-old man during infertility treatment

New Delhi: A 26-year-old man seeking infertility treatment was found to have a fully formed but underdeveloped uterus and fallopian-tube-like structures inside his body, leading doctors at RG Hospitals in Rajouri Garden to diagnose a rare congenital condition that had gone undetected until adulthood.

The patient initially approached the hospital with primary infertility. Investigations revealed azoospermia, a condition in which no sperm are present in the semen. Doctors also found that both his testes had remained undescended, prompting further imaging and genetic evaluation.

An MRI scan showed a uterus-like structure in the pelvis, along with tubular structures resembling fallopian tubes. Genetic testing revealed a 46,XY chromosome pattern, raising suspicion of Persistent Müllerian Duct Syndrome (PMDS).

PMDS is a rare congenital condition in which Müllerian structures, including the uterus and fallopian tubes, persist in an individual with typically male chromosomes and male physical development. Fewer than 300 cases have been reported in medical literature. The condition is generally detected during childhood, often when an undescended testis is being investigated or treated. Its discovery in adulthood during an infertility evaluation is particularly unusual.

Laparoscopic exploration confirmed the presence of a small, underdeveloped uterus and tubular Müllerian structures associated with both testes, which were located inside the abdomen.

Given the patient’s age, long-standing bilateral undescended testes, severe testicular damage and the associated risk of malignancy, the surgical team decided to remove the Müllerian structures and both testes through laparoscopic surgery.

The procedure was performed by Dr Susheel Kharbanda, Chief Urologist at RG Hospitals, Rajouri Garden.

“This was an extremely unusual case because the patient came to us with infertility, and the underlying condition had remained undiagnosed until adulthood. The evaluation showed that he had a persistent Müllerian structure along with both testes located inside the abdomen,” Dr Kharbanda said.

“The testes were also severely atrophied, which was an important concern because undescended testes carry a higher risk of testicular cancer. We therefore had to approach the surgery carefully, taking into account both the unusual anatomy and the long-term health risks,” he added.

The most significant finding emerged during the post-surgical histopathological examination. While both testes were found to be severely atrophied, tissue from the left testis showed Germ Cell Neoplasia In Situ (GCNIS), a pre-cancerous change that can potentially progress to testicular cancer.

The right testis showed severe atrophy but no evidence of GCNIS. Blood tests for common testicular tumour markers were normal.

Doctors said the finding underscores that normal tumour-marker levels do not necessarily rule out early or pre-cancerous changes, particularly in patients with long-standing undescended testes.

The case highlights the importance of investigating unexplained infertility in patients with bilateral undescended testes. A combination of imaging, genetic testing, laparoscopic examination and detailed tissue analysis enabled the doctors to identify both the rare congenital condition and the previously unsuspected cancer risk.

The hospital said the case was managed through a multidisciplinary approach involving urology, radiology, pathology, reproductive medicine and endocrinology. The coordinated use of imaging, genetic evaluation, minimally invasive surgery and histopathology helped the team address the patient’s complex anatomy and associated oncological risks.