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Rare Medical Case : 24-Year-Old Man Found With Uterus During Infertility Evaluation

New Delhi : A 24-year-old man who went to a hospital in Delhi for an infertility evaluation was reportedly found to have a well-formed uterus inside his body. The man had been living as a male and had typical male physical characteristics. The procedure was performed by Dr Susheel Kharbanda, Chief Urologist, RG Hospitals, Rajouri Garden.

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 carry out further investigations, including chromosome testing, hormonal tests and imaging.

“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. 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.

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. The presence of undescended testes can have an important effect on fertility.

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.

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