An infertility test turned out to be a turning point in the life of a 26-year-old man in Delhi after doctors found a uterus and fallopian-tube-like structures inside his body.
Experts diagnosed the man with a rare congenital condition that had remained undetected until adulthood. Initially, he consulted the experts with issues regarding infertility. He was found to have azoospermia, or absence of sperm in semen, and both his testes were undescended.
How was his rare condition detected?
As per experts, further investigations which included MRI and genetic testing, revealed a uterus-like structure and tubular structures in the pelvis, while genetic testing showed a 46,XY chromosome pattern.
Persistent Mullerian Duct Syndrome (PMDS), an extremely 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 was found from the tests.
What makes the case interesting is how it was not diagnosed till adulthood. According to doctors, 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.
"Considering the patient's age, long-standing undescended testes, severe testicular damage and increased risk of testicular cancer, the surgical team removed the abnormal Mullerian structures and both testes through laparoscopic surgery," said Dr Susheel Kharbanda, chief urologist at RG Hospitals to PTI.
Surprisingly, experts also found an abnormality in the left testis. It 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, reported PTI.
