A 26-year-old man in Delhi who visited RG Hospitals in Rajouri Garden for infertility treatment was found to have a rare congenital condition in which a uterus and fallopian-tube-like structures had remained inside his body. What began as an evaluation for primary infertility led doctors to discover Persistent Müllerian Duct Syndrome (PMDS), a condition usually detected during childhood, along with a pre-cancerous change in one of his severely damaged testes.
The patient had azoospermia, meaning no sperm were found in his semen. Both his testes were undescended and located inside the abdomen. Further tests revealed the unusual reproductive anatomy, while surgery later uncovered an unexpected cancer risk.
Delhi infertility evaluation uncovers rare congenital condition
Doctors investigating the man’s infertility carried out imaging and genetic tests because both testes had remained undescended. An MRI scan showed a uterus-like structure in the pelvis and structures resembling fallopian tubes. Genetic testing showed a 46,XY chromosome pattern, prompting the team to investigate PMDS.
In simple terms, 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 usually diagnosed in childhood, making its first detection in adulthood during an infertility evaluation particularly unusual.
Delhi doctors remove abnormal reproductive structures and testes
Laparoscopic exploration confirmed a small, underdeveloped uterus and tubular Müllerian structures associated with both testes. The testes were inside the abdomen and had suffered severe damage over time.
Given the patient’s age, long-standing undescended testes, severe atrophy and increased cancer risk, the surgical team removed the Müllerian structures and both testes through laparoscopic surgery. The procedure was performed by Dr Susheel Kharbanda, Chief Urologist, 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.”
Delhi case reveals pre-cancerous change after surgery
The most unexpected finding came when the removed 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. Blood tests for common testicular tumour markers were normal. The finding highlights that normal tumour-marker levels do not always rule out early or pre-cancerous changes, particularly in patients with long-standing undescended testes.
Delhi doctors highlight need to investigate unexplained infertility
PMDS is usually identified much earlier in life, often when a child is being evaluated or treated for an undescended testis. Finding it for the first time in adulthood during infertility treatment is uncommon.
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. The case also highlights the importance of investigating unexplained infertility when it occurs alongside bilateral undescended testes.
(with inputs from ANI)
Khalid Lateef is a Sub-Editor at NewsX Digital, specializing in Indian politics and global affairs. He also covers viral trending stories and major crime developments.
