New Delhi [India], September 11 (ANI): A 26-year-old man who approached RG Hospitals, Rajouri Garden, for infertility 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.
The evaluation also found that both his testes had remained undescended, with one showing a pre-cancerous change. Following detailed evaluation, the patient underwent laparoscopic surgery to remove the abnormal reproductive structures and both severely damaged testes.
The patient had been seeking treatment for primary infertility and was found to have azoospermia, meaning there were no sperm in his semen. Since both testes were undescended, the doctors carried out further imaging and genetic tests to determine the underlying cause.
An MRI scan revealed a uterus-like structure in the pelvis along with structures resembling the fallopian tubes. Genetic testing showed a 46,XY chromosome pattern, leading doctors to investigate the possibility of a rare condition called Persistent Müllerian Duct Syndrome (PMDS).
In simple terms, PMDS is a congenital condition in which 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, with fewer than 300 cases reported in the medical literature. It is usually diagnosed in childhood, making its first detection in adulthood during an infertility evaluation particularly unusual.
Laparoscopic exploration confirmed the presence of a small, underdeveloped uterus with tubular Müllerian structures associated with both testes, which were located inside the abdomen. Given the patient's age, long-standing undescended testes, severe testicular damage, 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. Giving details of the case, Dr Susheel 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 a persistent Müllerian structure 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.”
The most unexpected finding 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. The patient's 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 in the testis, particularly in patients with long-standing undescended testes.
PMDS is usually 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.
The successful management of the case reflects RG Hospital’s multidisciplinary approach to complex urological conditions, bringing together expertise in urology, radiology, pathology, reproductive medicine and endocrinology. The coordinated use of imaging, genetic evaluation, minimally invasive surgery, and histopathology enabled the team to address the associated oncological risk. (ANI)
Delhi hospital treats 26-year-old man with a fully formed uterus using laparoscopic surgery
