New Delhi, Sep 9 (PTI) A 26-year-old man being evaluated for infertility was found to have a uterus and fallopian-tube-like structures inside his body, leading doctors at a Delhi hospital to diagnose a rare congenital condition that had remained undetected until adulthood.
The man, who approached RG Hospitals in Rajouri Garden with primary infertility, was found to have azoospermia, or absence of sperm in semen, and both his testes were undescended.
Further investigations, including MRI and genetic testing, revealed a uterus-like structure and tubular structures in the pelvis, while genetic testing showed a 46,XY chromosome pattern, doctors said.
The findings pointed to Persistent Müllerian Duct Syndrome (PMDS), an extremely rare congenital condition in which Müllerian structures such as the uterus and fallopian tubes persist in a person with typically male chromosomes and physical development.
Fewer than 300 cases of PMDS have been reported in medical literature, and the condition is generally detected in childhood, often during evaluation for undescended testes. Its first detection in adulthood during an infertility evaluation is particularly unusual, doctors said.
Laparoscopic exploration confirmed a small, underdeveloped uterus and tubular Müllerian 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 risk of testicular cancer, the surgical team removed the abnormal Müllerian structures and both testes through laparoscopic surgery, said Dr Susheel Kharbanda, chief urologist at RG Hospitals.
The more concerning finding emerged during examination of the removed tissue.
The left testis showed Germ Cell Neoplasia In Situ (GCNIS), a pre-cancerous change that can progress to testicular cancer, while the right testis showed severe atrophy but no evidence of GCNIS.
Blood tests for common testicular tumour markers were normal.
Dr Kharbanda said the case was unusual as the congenital condition had remained undiagnosed until adulthood and the patient had both testes located inside the abdomen and severely atrophied.
The case highlights the importance of investigating unexplained infertility in men with bilateral undescended testes, as imaging, genetic testing, laparoscopic examination and histopathology can reveal underlying congenital abnormalities and associated cancer risks, doctors said.
The treatment involved a multidisciplinary team comprising urology, radiology, pathology, reproductive medicine and endocrinology specialists, the hospital said. PTI SGV MDO MDO
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