Delhi Man, 24, Found With Uterus During Infertility Check: What Is This Rare Condition?

Doctors in Delhi discovered a rare reproductive abnormality in a 24-year-old man after he sought treatment for infertility and was found to have absent testes in the scrotum and no sperm in his semen.

The 24-year-old man went to a Delhi hospital for an infertility evaluation, where he was diagnosed with a rare condition known as azoospermia.

Source : सोशल मीडिया

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Key points generated by AI, verified by newsroom

• Man seeking infertility evaluation found to have uterus.
• Tests revealed XY chromosomes, confirming Persistent Müllerian Duct Syndrome.
• Surgeons removed uterus and internal testes to prevent cancer risk.

A 24-year-old man who went to a Delhi hospital for an infertility evaluation was found to have a well-formed uterus inside his body, along with both testes located internally. The rare finding emerged during tests after he was found to have no sperm in his semen.

According to a report by India Today Digital, the man had been living as a male and had typical male physical characteristics. He had no obvious symptoms pointing to the unusual reproductive anatomy and initially sought medical attention because of infertility.

The case was examined by Dr Susheel Kharbanda, Chief Urologist at RG Hospitals in Rajouri Garden.

“He came to me for infertility. Otherwise, he was actually active. All the male characters he had,” Dr Kharbanda told India Today Digital.

Infertility Tests Reveal Unusual Anatomy

During the physical examination, doctors found that both testes were absent from the scrotum. A 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 tests, including chromosome analysis, hormonal investigations and imaging.

Chromosomal testing showed that the patient had an XY male chromosomal pattern. However, ultrasound and MRI scans revealed a well-formed uterus inside his body.

“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 said their appearance resembled ovaries.

“And both testicles, they were just like ovaries as they are in females,” he said.

Further genetic and hormonal investigations were carried out to understand the condition.

What Is Persistent Müllerian Duct Syndrome?

According to Dr Chirag Bhandari, Andrologist and Male Reproductive Health Specialist and Founder of IASH Institute of Andrology and Sexual Health, the findings can occur in a rare condition known as Persistent Müllerian Duct Syndrome (PMDS).

“This is called Persistent Müllerian 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 Müllerian structures, including the uterus and sometimes the fallopian tubes, remain present in a person with male chromosomes and typically male external genitalia.

During normal male development, the Müllerian ducts regress because of anti-Müllerian hormone (AMH), which is produced by the testes. Dr Bhandari said these structures may remain when AMH is not produced sufficiently or when the body does not respond adequately to the hormone.

“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.

Why Can PMDS Cause Infertility?

One of the factors affecting fertility in such cases can be the location of the testes. Normal sperm production requires the testes to remain at a temperature lower than the body's core temperature. When they remain inside the abdomen, sperm production can be affected.

Dr Bhandari said infertility can also be linked to anatomical, hormonal, genetic or developmental factors.

“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, having PMDS does not automatically mean that a person cannot father a child. Fertility depends on the functioning 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.

When sperm is absent from the semen, doctors can 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.

Uterus, Testes Removed Through Laparoscopy

Following the investigations, the medical team removed the uterus and both internally located testes through a laparoscopic procedure.

Dr Kharbanda said the decision to remove the testes was linked to the possibility of cancer developing in undescended testes.

“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.

The tissue removed during the procedure 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 retaining them inside the abdomen could increase the risk of cancer 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.

How This Condition Can Remain Undetected

Dr Bhandari said PMDS is extremely rare, with only a few hundred cases described in medical literature.

He said the discovery of a uterus in a person raised and identified as male should prompt a detailed medical evaluation.

“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 an infertility evaluation can uncover previously undiagnosed anatomical or developmental conditions. In patients with azoospermia, undescended testes or unexplained infertility, doctors may recommend imaging, hormonal and genetic testing to investigate the underlying cause.