26-year-old man with infertility found to have a fully developed uterus in rare medical case
New Delhi: A rare medical case has come to light in Delhi, where a 26-year-old man who visited a hospital for infertility was found to have a fully developed uterus inside his body.
The man had been living as a male and had typical male physical characteristics. However, during medical examinations to determine the cause of his infertility, doctors discovered an unusual reproductive anatomy.
Dr Sushil Kharbanda, chief urologist at RG Hospitals in Rajouri Garden, performed the surgery. He said the man had no specific symptoms apart from infertility.
“The young man came to me with infertility but was otherwise active. He had all the normal physical characteristics of a male,” Dr Kharbanda said.
Scans reveal unexpected findingDuring the initial examination, doctors found that both the man's testes were not present in the scrotum. A subsequent semen analysis showed no sperm, a condition medically known as azoospermia.
“On examination, both testes were not found. The semen analysis also showed zero sperm count, which meant he had azoospermia,” Dr Kharbanda said.
Doctors then conducted further tests, including chromosome and hormone tests. Ultrasound and MRI scans were also performed.
The scans revealed that the man had a well-developed uterus inside his body.
XY chromosomes but uterus inside the bodyChromosome testing confirmed that the man had the XY chromosome pattern typically associated with males.
“Chromosomally, he was a normal XY male. But when we conducted an ultrasound and MRI for further evaluation, we were surprised to find a well-developed uterus inside his body,” Dr Kharbanda said.
The scans also showed that both testes were located inside the body. According to the doctor, their appearance resembled that of ovaries.
Further genetic and hormonal tests were conducted to determine the reason behind the rare condition.
According to Dr Chirag Bhandari, an andrologist, male reproductive health specialist and founder of the Institute of Andrology and Sexual Health, the condition could be Persistent Müllerian Duct Syndrome (PMDS).
“This is known as PMDS. It is a condition in which a person has male external genitalia, including testes and a penis, but the uterus remains inside the body. It is an extremely rare condition,” Dr Bhandari explained.
Persistent Müllerian Duct Syndrome is a rare disorder related to sexual development. In this condition, a person with XY male chromosomes retains Müllerian structures that would normally disappear during foetal development. These structures can include the uterus and, in some cases, the fallopian tubes.
Normally, during the development of a male foetus, the testes produce anti-Müllerian hormone (AMH), which causes the Müllerian ducts to disappear.
In PMDS, the testes may fail to descend into the scrotum and can remain inside the abdomen or the inguinal canal. This can affect sperm production.
Sperm production requires a temperature lower than the body's internal temperature. When the testes remain inside the abdomen, exposure to the higher temperature can affect sperm production.
According to Dr Bhandari, a lack of sperm is not the only possible cause of infertility. Physical abnormalities, hormonal problems, genetic factors and developmental conditions can also affect fertility.
However, not every man with PMDS is necessarily unable to father a child. If the testes are functioning properly and are of normal size and capacity, and sperm are present in the semen, natural conception may still be possible, he said.
If sperm are not found in the semen, doctors may assess whether sperm can be retrieved directly from the testes.
The medical team decided to remove the uterus and both testes located inside the body through laparoscopic surgery, Dr Kharbanda said.
“I explained to the patient why they needed to be removed. If these structures were left inside the body, there could be a risk of cancer in the future.
PMDS is an extremely rare medical condition, with only a limited number of cases reported in medical literature, Dr Bhandari said.
He added that finding a uterus in a person who has been raised and lived as a male should not simply be viewed as a medical curiosity. Such cases require comprehensive evaluation by specialists in andrology, reproductive endocrinology and, where necessary, genetics.