A 26-year-old man undergoing evaluation for infertility at a Delhi hospital was stunned to learn that he had a uterus and fallopian-tube-like structures inside his body.
A 26-year-old man undergoing evaluation for infertility at a Delhi hospital was stunned to learn that he had a uterus and fallopian-tube-like structures inside his body. The discovery led doctors to diagnose a rare congenital condition that had remained undetected until adulthood.
The man approached RG Hospitals in Rajouri Garden with primary infertility. Medical experts found that he had azoospermia, the complete absence of sperm in semen, along with both testes undescended.
Doctors conducted further investigations, including MRI scans and genetic testing. Imaging revealed a uterus-like structure and tubular structures in the pelvis, while genetic testing showed a 46,XY chromosome pattern.
Related Articles
The findings pointed to Persistent Müllerian Duct Syndrome (PMDS), an extremely rare congenital disorder in which Müllerian structures, including the uterus and fallopian tubes, persist despite a person having typically male chromosomes and physical development.
Fewer than 300 cases of PMDS have been reported in medical literature. The condition is usually detected during childhood, often when doctors investigate undescended testes. Its discovery for the first time in adulthood during an infertility evaluation is considered particularly unusual.
Laparoscopic exploration later confirmed the presence of a small, underdeveloped uterus and tubular Müllerian structures connected with both testes. Both testes were found inside the abdomen.
Given the patient's age, long-standing undescended testes, severe testicular damage and increased risk of testicular cancer, doctors decided to surgically remove the abnormal Müllerian structures as well as both testes through laparoscopic surgery.
Dr Susheel Kharbanda, chief urologist at RG Hospitals, said the decision was based on the patient's prolonged condition and the significant risks associated with the undescended and severely damaged testes.
However, the most concerning discovery came when doctors examined the removed tissue.
The left testis showed Germ Cell Neoplasia In Situ (GCNIS), a pre-cancerous change that can potentially progress to testicular cancer. The right testis had severe atrophy but showed no evidence of GCNIS.
Blood tests for common testicular tumour markers, meanwhile, 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.
Doctors noted that a combination of imaging, genetic testing, laparoscopic examination and histopathology can help uncover hidden congenital abnormalities while also identifying potentially serious cancer risks.
The patient’s treatment involved a multidisciplinary team of specialists from urology, radiology, pathology, reproductive medicine and endocrinology, the hospital said.
