A 24-year-old man seeking infertility treatment in Delhi reportedly discovered that he had a well-formed uterus inside his body. Doctors made the unusual discovery after his semen analysis showed no sperm. The man had lived as a male and displayed typical male physical characteristics. During examination, doctors also found that both his testes were absent from the scrotum. These findings prompted the medical team to conduct further tests, including hormonal, genetic and imaging examinations. Ultrasound and MRI scans later revealed the unexpected reproductive anatomy inside his body.
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Delhi: Scans Reveal a Rare Condition
Chromosomal testing showed that the man had an XY male pattern. However, imaging revealed a well-formed uterus along with both testes inside his abdomen. Doctors identified the condition as Persistent Müllerian Duct Syndrome, or PMDS. This rare disorder occurs when Müllerian structures such as the uterus remain in a person with male chromosomes. Doctors normally see these structures disappear during male development because of anti-Müllerian hormone. Problems with the hormone or the body’s response to it can prevent this process. Specialists carried out additional tests to understand the patient’s condition and reproductive health.
Doctors said the patient’s undescended testes likely affected his ability to produce sperm. Testes normally need a lower temperature than the body’s core temperature for healthy sperm production. When testes remain inside the abdomen, higher temperatures can interfere with sperm development. However, doctors explained that PMDS does not automatically cause complete infertility. Specialists can assess the condition of the testes and determine whether they produce viable sperm. In some cases, doctors can retrieve sperm directly from the testes and use assisted reproductive techniques such as IVF or ICSI.
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Doctors Remove the Internal Reproductive Structures
Doctors later removed the uterus and both undescended testes through a laparoscopic procedure. The medical team considered surgery because undescended testes can carry an increased long-term risk of cancer. Doctors sent the removed tissues for biopsy to check for abnormal or malignant changes. According to the treating doctor, the biopsy showed only minimal signs of malignancy. The medical team believed removing the undescended testes would reduce potential future health risks. Doctors also explained the procedure and its medical reasons to the patient before carrying it out.
Specialists consider PMDS an extremely rare reproductive developmental condition, with only a limited number of reported cases. Doctors say such cases require detailed evaluation involving urologists, andrologists, reproductive specialists and genetic experts. The Delhi case also highlights how infertility investigations can uncover hidden anatomical or developmental conditions. Patients with unexplained infertility or azoospermia may require imaging, hormonal tests and genetic investigations. Early diagnosis can help doctors understand the underlying condition and determine suitable treatment options. The case demonstrates the importance of comprehensive medical evaluation when standard infertility tests reveal unexplained abnormalities.
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