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Rare Medical Discovery: Delhi Man Found to Have Uterus and Fallopian Tubes
A 26-year-old Delhi man seeking infertility treatment was diagnosed with the rare congenital condition Persistent Müllerian Duct Syndrome after doctors discovered a uterus-like structure and fallopian tube-like structures. Surgery also revealed severe testicular damage and a pre-cancerous change in one testis.
MRI Scan Reveals Uterus-Like Structure and Fallopian Tube-Like Structures in Pelvis A 26-year-old man in Delhi who sought treatment for infertility was found to have a rare congenital condition in which a uterus and fallopian tube-like structures had remained inside his body, doctors said. The patient visited RG Hospitals in Rajouri Garden with a complaint of primary infertility. Tests showed that he had azoospermia, a condition in which there are no sperm in the semen, according to an ANI report. Further examination revealed that both of his testes were undescended. Doctors then conducted detailed imaging and genetic tests to determine the reason behind the unusual findings. An MRI scan showed a uterus-like structure in the pelvis along with structures resembling fallopian tubes. Genetic testing revealed a 46,XY chromosome pattern, prompting doctors to investigate Persistent Müllerian Duct Syndrome (PMDS).
PMDS is a rare congenital condition in which Müllerian structures, including the uterus and fallopian tubes, remain in a person with typically male chromosomes and male physical development. Fewer than 300 cases have reportedly been documented in medical literature. The condition is usually identified during childhood, particularly when a patient is being evaluated for an undescended testis. However, discovering PMDS for the first time in adulthood during an infertility evaluation is considered highly unusual. Laparoscopic examination confirmed the presence of a small, underdeveloped uterus and tubular Müllerian structures associated with both testes. Doctors also found that both testes were located inside the abdomen. Considering the patient's age, long-standing undescended testes, severe testicular damage and the increased risk of testicular cancer, doctors decided to remove the Müllerian structures along with 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, according to ANI. He further explained that the testes were severely atrophied, which was a major concern because undescended testes are associated with an increased risk of testicular cancer. Doctors therefore had to carefully plan the surgery while considering the patient's unusual anatomy and long-term health risks. Surgery Reveals Pre-Cancerous Changes The most significant finding emerged after surgery when the removed tissue was examined under a microscope.
Both testes were found to be severely atrophied. The left testis showed Germ Cell Neoplasia In Situ (GCNIS), a pre-cancerous condition that can potentially progress to testicular cancer. The right testis showed severe atrophy but no evidence of GCNIS. Blood tests for commonly used testicular tumour markers were normal. Doctors said 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. Infertility Leads to Rare Diagnosis Doctors said the case underlines the importance of investigating unexplained infertility, particularly when it occurs alongside undescended testes on both sides. What initially appeared to be a case of male infertility ultimately led to the discovery of a rare congenital condition as well as an unexpected pre-cancerous change. A combination of MRI imaging, genetic testing, laparoscopic exploration and detailed examination of the tissue helped doctors identify the condition and assess the associated cancer risk.
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