26-year-old man goes for infertility tests, discovers he has a uterus

26-year-old man goes for infertility tests, discovers he has a uterus

Mangalore Today News Network

New Delhi, Sep 11, 2026: A 26-year-old man was diagnosed with Persistent Mullerian Duct Syndrome (PMDS), after he approached a hospital for infertility. PMDS is an exceptionally rare congenital condition, with fewer than 300 cases reported in the medical literature. It happens when a biologically male person (with normal male chromosomes and appearance) develops female reproductive organs, such as a uterus and fallopian tubes. The condition is usually diagnosed in childhood, making its first detection in adulthood during an infertility evaluation particularly unusual.

Doctors say that the evaluation also found that both his testes had remained undescended, with one showing a pre-cancerous change. The patient had earlier been seeking treatment for primary infertility and was found to have azoospermia, meaning there was no sperm in his semen. Since both testes were undescended, the doctors carried out further imaging and genetic tests to determine the underlying cause. After a detailed evaluation, the patient underwent laparoscopic surgery to remove the abnormal reproductive structures and both severely damaged testes.

 

Testing And Diagnosis

The 26-year-old underwent an MRI scan which revealed a uterus-like structure in the pelvis along with structures resembling the fallopian tubes. Further, genetic testing showed a 46,XY chromosome pattern, leading doctors to investigate the possibility of a rare condition called Persistent Mullerian Duct Syndrome (PMDS).

PMDS is a congenital condition wherein structures such as the uterus and fallopian tubes remain in a person who has typically male chromosomes and male physical development. It is an exceptionally rare congenital condition, and is usually diagnosed in childhood.

Treatment For The Condition

The patient underwent treatment for his condition at RG Hospitals, Rajouri Garden. Doctors conducted laparoscopic procedures which confirmed the presence of a small, underdeveloped uterus with tubular Mullerian structures associated with both testes, which were located inside the abdomen. Considering the patient’s age, long-standing undescended testes, severe testicular damage and increased cancer risk, the surgical team removed the Mullerian structures and both testes through laparoscopic surgery. The procedure was performed by Dr Susheel Kharbanda, Chief Urologist, RG Hospitals, Rajouri Garden.

Speaking about the case, Dr Kharbanda said, "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 persistent Mullerian structures along with both testes located inside the abdomen. 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."

Further Developments

One of the most unexpected findings came after surgery, when the tissue was examined under a microscope.

Both testes were severely atrophied, but the left testis showed Germ Cell Neoplasia In Situ (GCNIS), a pre-cancerous change that can develop into testicular cancer. The right testis showed severe atrophy but no evidence of GCNIS. However, the patient’s blood tests for common testicular tumour markers were normal. This 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.

In most cases, PMDS is identified much earlier in life, often when a child is being evaluated or treated for an undescended testis. Finding the condition for the first time in adulthood during an infertility evaluation is uncommon. In this case, what initially appeared to be male infertility led doctors to uncover both a rare congenital condition and an unexpected cancer risk.

The case also highlights the importance of investigating unexplained infertility when it occurs alongside bilateral undescended testes. A combination of imaging, genetic testing, laparoscopic examination and detailed tissue analysis helped the team identify the condition and the pre-cancerous change.