The unusual finding emerged during an investigation into his infertility. The procedure was performed by Dr Susheel Kharbanda, Chief Urologist, RG Hospitals, Rajouri Garden. Speaking to India Today Digital, Dr Kharbanda said the patient had initially approached him because of infertility and had no obvious symptoms indicating the unusual reproductive anatomy.
“He came to me for infertility. Otherwise, he was actually active. All the male characters he had,” Dr Kharbanda said.
During the physical examination, doctors found that both testes were absent from the scrotum. His semen analysis also showed no sperm, a condition medically known as azoospermia.
“When I examined him, both testes were absent,” Dr Kharbanda said. “His semen analysis was saying nil, that is, azoospermia.”
The findings prompted doctors to conduct further investigations, including chromosome testing, hormonal tests and imaging.
Chromosomal testing showed that the patient had an XY male chromosomal pattern. However, ultrasound and MRI scans revealed the unexpected presence of a well-formed uterus.
“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 showed that both testes were located inside the body. Dr Kharbanda described their appearance as resembling ovaries.
“And both testicles, they were just like ovaries as they are in females,” he said.
Doctors then carried out additional genetic and hormonal investigations to understand the rare condition.
According to Dr Chirag Bhandari, Andrologist and Male Reproductive Health Specialist and Founder of IASH Institute of Andrology and Sexual Health, the finding can occur because of a rare condition known as Persistent Mllerian Duct Syndrome, or PMDS.
“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.
PMDS is a rare disorder of sexual development in which Mllerian structures, including the uterus and sometimes fallopian tubes, remain present in a person who has male chromosomes and typically male external genitalia.
Dr Bhandari explained that during normal male development, the Mllerian ducts regress because of anti-Mllerian hormone, or AMH, produced by the testes. If AMH is not produced adequately or the body does not respond properly to it, these structures may remain.
“Normal male embryos undergo regression of Mllerian ducts because of the presence of anti-Mllerian hormone, AMH, released by the testes. In cases where AMH is not produced in sufficient quantities, or there is no adequate response to the hormone, the ducts might remain,” he said.
The presence of undescended testes can have an important effect on fertility. Sperm production requires the testes to remain at a temperature lower than the body's core temperature. When the testes remain inside the abdomen, sperm production can be affected.
Dr Bhandari said infertility is not always caused by sperm count alone and can also result from anatomical, hormonal, genetic or developmental problems.
“In certain instances of PMDS, the testicles may be found in a wrong location, such as in the abdomen or the inguinal canal rather than the scrotum,” he said.
However, PMDS does not automatically mean that a person cannot father a child. Fertility depends on the function of the testes and whether viable sperm are available.
“If the man has functioning testes, which means that the testicular volume and size are normal and there is sperm in the ejaculate, he can conceive naturally,” Dr Bhandari said.
If sperm are not present in the semen, doctors may assess whether sperm can be retrieved directly from the testes. Depending on the findings, assisted reproductive techniques such as IVF or ICSI may be considered.
Dr Kharbanda said the medical team decided to remove the uterus and both testes through a laparoscopic procedure, which is a minimally invasive surgical technique.
“I just explained to the patient that we have to remove those female ovaries. The reason for removal was there are always a chance of cancer,” he said.
After removal, the tissue was sent for biopsy. Dr Kharbanda said the examination showed minimal signs of malignancy.
“In the biopsy also, there were very minimal signs of malignancy,” he said.
He added that removing the undescended testes was considered important because leaving them inside the abdomen could increase the risk of cancer developing in the future.
“It's good we removed those. If we have not removed them, in the future, you might develop cancer in those testicles,” Dr Kharbanda said.
Dr Bhandari said PMDS is extremely rare, with only a few hundred cases described in medical literature. He stressed that discovering a uterus in a person raised and identified as male should not be viewed simply as a strange medical finding. It requires a detailed evaluation by specialists.
“The presence of a uterus should not be merely seen as a strange event. It obligates andrology, reproductive endocrinology, and, if necessary, genetics specialists to examine the patient,” he said.
The case highlights how a detailed infertility evaluation can sometimes uncover previously undiagnosed developmental or anatomical conditions. For patients with azoospermia, undescended testes or unexplained infertility, doctors may recommend imaging, hormonal and genetic testing to understand the underlying cause and determine appropriate treatment.
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