A 24-year-old man undergoing an infertility evaluation at a hospital in Delhi was found to have a rare reproductive condition in which a well-formed uterus and other female reproductive structures were present inside his body.
The unusual case came to light after doctors investigated the man's infertility and discovered that both his testes were located inside the abdomen rather than in the scrotum. The patient had otherwise developed typical male physical characteristics.
According to Dr Susheel Kharbanda, Chief Urologist at RG Hospitals, Rajouri Garden, who treated the patient, the man had no obvious symptoms suggesting the unusual condition.
“He came to me for infertility. Otherwise, he was actually active. All the male characters he had,” Dr Kharbanda told India Today.
Tests reveal Azoospermia and undescended testes
During the examination, doctors found that neither testicle was present in the scrotum. A semen analysis also showed azoospermia, meaning no sperm were detected in the semen.
“When I examined him, both testes were absent,” Dr Kharbanda said. “His semen analysis was saying nil, that is, azoospermia.”
Further evaluation included chromosome analysis, hormone testing and imaging. The genetic testing showed a 46,XY male chromosomal pattern. However, ultrasound and MRI produced an unexpected finding: a well-developed uterus was present inside the pelvis.
“He was chromosomally normal, that is, XY male. And on further investigation, ultrasound and MRI, they were shocking for us. There was a well-formed uterus inside,” Dr Kharbanda said.
The scans also located both testes internally, in a position that can resemble the location of ovaries.
What is persistent Müllerian Duct Syndrome?
The findings are consistent with Persistent Müllerian Duct Syndrome (PMDS), an extremely rare congenital disorder of sexual development.
Dr Chirag Bhandari, Andrologist and Male Reproductive Health Specialist and Founder of IASH Institute of Andrology and Sexual Health, told The Free Press Journal that the condition can occur when Müllerian structures fail to disappear during male fetal development.
“This is called Persistent Mllerian Duct Syndrome, which means that the uterus is still present inside the man while he has normal external genitalia, like testes and penis. So, this is a very rare condition,” Dr Bhandari said.
Normally, anti-Müllerian hormone (AMH), produced by fetal testicular tissue, triggers regression of the Müllerian ducts. Problems involving AMH or its receptor can allow structures such as the uterus and fallopian tubes to persist.
Why can PMDS cause infertility?
Many men with PMDS are diagnosed because of undescended testes, inguinal hernia or infertility. The abnormal position of the testes can affect sperm production, while associated abnormalities of the reproductive ducts may also interfere with fertility.
Importantly, PMDS does not mean that a person develops a uterus later in life. These structures are present from birth but may remain undetected until adulthood.
The condition is rare, and diagnosis typically requires imaging, hormonal evaluation and, in selected cases, genetic testing. Management depends on the patient's anatomy, fertility goals and the position and condition of the testes. Undescended testes may also require treatment because prolonged cryptorchidism is associated with impaired fertility and an increased risk of testicular cancer.
The Delhi case highlights how a detailed infertility evaluation can sometimes uncover rare developmental conditions that may otherwise remain hidden for decades.
