Delhi man discovers he has uterus, fallopian tubes during infertility treatment

In an unusual case, a 26-year-old man who sought treatment for infertility at RG Hospitals in Delhi was found to have a uterus and fallopian-tube-like structures inside his body, revealing a rare congenital condition that had gone undiagnosed until adulthood.

The patient had approached the hospital for primary infertility and was diagnosed with azoospermia, ANI reported.

Further evaluation found that both his testes were undescended, prompting doctors to conduct imaging and genetic tests to determine the underlying cause, the hospital said.

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

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Rare congenital condition

PMDS is a congenital condition in which structures such as the uterus and fallopian tubes remain in a person with typically male chromosomes and male physical development. It is exceptionally rare, with fewer than 300 cases reported in medical literature.

The condition is generally diagnosed during childhood, often when a child is being evaluated or treated for an undescended testis. Its detection for the first time in adulthood during an infertility evaluation is particularly uncommon.

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

Given the patient's age, long-standing undescended testes, severe testicular damage and increased cancer risk, doctors removed 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 as quoted by ANI.

“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 unexpected finding emerged after surgery when the removed tissue was examined under a microscope. Both testes were found to be severely atrophied, while the left testis showed Germ Cell Neoplasia In Situ (GCNIS), a pre-cancerous change that can develop into testicular cancer, the report further added.

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

The case highlights that normal tumour-marker levels do not always rule out early or pre-cancerous changes in the testis, particularly in patients with long-standing undescended testes.

Infertility led to diagnosis

Doctors said the case demonstrates the importance of investigating unexplained infertility when it occurs alongside bilateral undescended testes.

In this case, what initially appeared to be male infertility led to the discovery of both a rare congenital condition and an unexpected cancer risk. A combination of imaging, genetic testing, laparoscopic examination and detailed tissue analysis helped doctors identify the condition and the pre-cancerous change.