24-Year-Old Man’s Infertility Test Reveals Rare Condition With Uterus And Undescended Testes

A 24-year-old male who came to hospital for infertility treatment in is said to have been diagnosed with a rare condition where the man had a well-developed uterus inside his body.

The man was raised and was living as male and had the typical male external features. But tests conducted upon his request for infertility treatment discovered an unusual internal reproductive system.

Dr Susheel Kharbanda (Chief Urologist, RG Hospitals, Rajouri Garden) said that the patient didn’t show any clear signs of the condition before undergoing the fertility test.

At a physical exam, doctors noticed that both of the patient’s testes were missing from his scrotum. A few months later, a semen analysis revealed the absence of any sperm in the semen, noted as azoospermia.

Doctors ordered further tests such as chromosome analysis, hormone analysis and imaging to be performed, due to the unexpected findings.

Chromosomal testing revealed an X Y pattern which is a male chromosomal profile. However, ultrasound and MRI indicated that there was a well developed uterus in the abdomen.

The images also revealed both testes were also inside the body and not in the scrotum.

Medical doctors suspect persistent Müllerian duct syndrome. The results matched a rare condition called (PMDS) said Dr Chirag Bhandari, an andrologist and doctor specializing in male reproductive health.

Often characterized as a rare disorder of sexual development, PMDS occurs in a person with a male chromosomal sex but some Müllerian structures (uterus and sometimes fallopian tubes) are still present and the external genitalia are usually male.

In normal development of the male fetus, these structures regress during the influence of anti-Müllerian hormone (AMH). When AMH is inadequate, or the body does not react properly to it, the Müllerian structures can continue.

The location of the testes can have a significant impact on fertility. The testes are normally located outside the body since sperm production takes place at a lower temperature than the core temperature.

If the testes are not moved out of the abdomen, sperm production may be affected and lead to infertility.

Rather, doctors said, PMDS does not necessarily imply that a person can’t father a child. The condition and the function of the testes and whether viable sperm are being produced are factors in fertility.

If no sperm are found in the semen, experts might consider whether sperm can be directly extracted from the testicle(s). If this is the case, assisted reproductive treatments like IVF or ICSI may also be considered.

At some point, doctors took the uterus and both undescended testes away using a laparoscope.

The decision to have the undescended testes removed was based on the risk of developing malignancy over time from the testes which are still in the abdomen, said Dr Kharbanda.

Subsequent removal of tissue was then followed by a biopsy. Dr Kharbanda said the examination revealed very slight features suggestive of malignancy.

Removal of the testes in the abdomen was thought to be significant because the retention of these testes will result in an increased risk of developing testicular cancer in the future, he said.

Dr Bhandari said PMDS was very rare and only a handful of cases reported in the medical literature.

Additionally, this case illustrates that an anatomical or developmental cause of infertility may not be identified until the individual has been evaluated for infertility.

If unexplained, azoospermia or undescended testes, a combination of imaging, hormonal assessment and genetic testing may be recommended to help determine the underlying cause.

Experts also said it was important to not just view a uterus in a person raised as a male as a unusual medical curiosity. These cases should be carefully evaluated by experts in andrology, reproductive endocrinology and, if applicable, genetics.