Delhi man goes for infertility test, finds out he has uterus

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.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. 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.Laparoscopic exploration confirmed a small, underdeveloped uterus and tubular Mullerian structures associated with both testes, which were located inside the abdomen. The testes were severely damaged and atrophied.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."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 Mullerian 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 said.The most significant finding emerged during microscopic examination of the removed tissue. Both testes were severely atrophied, while 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.

Blood tests for common testicular tumour markers were normal.The case highlights that normal tumour-marker levels do not necessarily rule out early or pre-cancerous changes, particularly in patients with long-standing undescended testes.PMDS is usually detected earlier in life, often when a child is evaluated or treated for an undescended testis. Its first detection in adulthood during an infertility evaluation is uncommon.

In this case, an investigation into male infertility led doctors to uncover both the rare congenital condition and an unexpected cancer risk.The case also highlights the need to investigate unexplained infertility when it occurs alongside bilateral undescended testes. Imaging, genetic testing, laparoscopic examination and detailed tissue analysis helped doctors identify the condition and the pre-cancerous change.RG Hospitals said the case was managed through a multidisciplinary approach involving urology, radiology, pathology, reproductive medicine and endocrinology. The team used imaging, genetic evaluation, minimally invasive surgery and histopathology to diagnose the condition and address the associated oncological risk.