A routine infertility assessment resulted in an unexpected medical finding when a man in his 20s was reportedly discovered to have a uterus and structures resembling fallopian tubes inside his body. According to reports, he sought medical evaluation after experiencing infertility and was diagnosed with azoospermia, a condition in which semen contains no sperm. Doctors also found that both of his testes had not descended into the scrotum.
Additional examinations revealed Müllerian structures, including a uterus. Doctors diagnosed him with Persistent Müllerian Duct Syndrome (PMDS), a rare congenital condition in which Müllerian structures remain in someone who otherwise has typical male physical development.
The unusual case demonstrates how certain reproductive and developmental conditions can remain unnoticed for many years and may only come to light when a person undergoes investigations for infertility.
WHAT IS PERSISTENT MÜLLERIAN DUCT SYNDROME?
Dr Chirag Bhandari, an andrologist, male reproductive health specialist and founder of IASH Institute of Andrology and Sexual Health, explained that PMDS is an uncommon condition in which Müllerian structures continue to exist in genetically male individuals.
“PMDS is a rare disorder of sexual development in which Müllerian structures remain present in genetically male individuals,” he said.
During normal male embryonic development, Müllerian ducts disappear due to anti-Müllerian hormone (AMH), which is produced by the testes. If the body does not produce enough AMH or cannot properly respond to the hormone, these structures can remain.
Dr Bhandari said people with PMDS may have normally developed male external genitalia even though a uterus is present internally.
“In Persistent Müllerian Duct Syndrome, the uterus remains inside the male body despite the presence of normal external genitalia, including the penis and testes. It is a very rare condition,” he explained.
WHY CAN PMDS AFFECT FERTILITY?
Fertility can be a significant concern in people with PMDS. Undescended testes can interfere with sperm production because healthy sperm development generally requires temperatures lower than the body's core temperature.
Dr Bhandari noted that in some PMDS cases, the testes may remain in abnormal locations, such as the abdomen or inguinal canal, instead of descending into the scrotum.
An undescended testicle can impair sperm production because sperm cells develop more effectively at the cooler temperatures found in the scrotum than those inside the abdomen.
However, a diagnosis of PMDS does not necessarily mean a person is unable to father biological children. Fertility depends on several factors, including testicular function, sperm production and whether viable sperm can be collected directly from the testes.
Dr Bhandari said that if the testes are functioning normally, have healthy size and volume, and sperm are present in the ejaculate, natural conception may be possible.
TREATMENT DEPENDS ON TESTICULAR AND SPERM FUNCTION
For men diagnosed with azoospermia, doctors may examine whether viable sperm can be obtained directly from the testes. Depending on the results, assisted reproductive procedures such as IVF or ICSI may be considered.
Dr Bhandari explained that in some patients, the testes may remain inside the abdomen and may have poor function. If doctors are unable to retrieve usable sperm, donor sperm could also be considered as a fertility option.
He emphasised that evaluating male infertility should involve more than simply checking sperm count. Reproductive anatomy, hormonal factors, genetics and developmental abnormalities can also contribute to infertility.
A RARE CONDITION THAT CAN REMAIN HIDDEN
Dr Bhandari said only a few hundred cases of PMDS have been reported in medical literature, making it an exceptionally rare disorder.
Although finding a uterus in someone who has been raised and identified as male may be surprising, the presence of such reproductive structures does not determine a person's gender identity or by itself establish their fertility potential.
Dr Bhandari said the discovery should not simply be regarded as an unusual medical curiosity. Instead, it calls for evaluation by specialists in andrology, reproductive endocrinology and, where appropriate, genetics.
Doctors need to examine the individual's reproductive anatomy, hormone levels, testicular function and availability of sperm before determining the most appropriate treatment.
PMDS therefore needs to be assessed on an individual basis rather than judged solely from a person's external physical characteristics. When the condition is discovered during an infertility investigation, detailed medical evaluation can help identify the underlying reproductive anatomy and establish which fertility options may be available.
