Delhi man with rare condition finds uterus and pre-cancerous growth during infertility tests

Rare diagnosis during infertility treatment

A 26-year-old man in Delhi, who sought medical help for infertility, recently received an unexpected diagnosis: he had a uterus and fallopian tubes, alongside undescended testes. This rare congenital condition, known as Persistent Müllerian Duct Syndrome (PMDS), was identified by doctors at RG Hospitals in Rajouri Garden. During subsequent surgery, a pre-cancerous growth was also found in one of his testes.

The man approached the hospital after struggling to conceive children. Initial tests confirmed he had azoospermia, meaning no sperm cells were present in his semen. Doctors also noted that both of his testes were undescended, a common indicator of underlying issues that can affect fertility.

What is Persistent Müllerian Duct Syndrome?

Further investigations, including an MRI scan, revealed a uterus-like structure and tubular formations in his pelvic region. Genetic testing confirmed a 46,XY chromosome pattern, which is typical for biological males. These findings led the medical team to diagnose PMDS.

PMDS is an extremely rare congenital condition where the Müllerian ducts, which usually develop into female reproductive organs like the uterus and fallopian tubes, fail to regress during male foetal development. This occurs despite the individual having male chromosomes and external male characteristics. Only around 300 cases have ever been reported in medical literature. Dr Susheel Kharbanda, Chief Urologist at RG Hospitals, explained that the patient "had been living as a male and had typical male physical characteristics" with no obvious symptoms pointing to the unusual internal anatomy before the infertility evaluation.

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

Dr Chirag Bhandari, an Andrologist and Male Reproductive Health Specialist at the IASH Institute of Andrology and Sexual Health, elaborated that in normal male embryos, anti-Müllerian hormone (AMH) causes these ducts to disappear. If AMH is insufficient or the body doesn't respond to it correctly, the structures remain. Typically, PMDS is discovered in childhood, often during evaluations for undescended testes, making an adult diagnosis during infertility investigations particularly unusual.

Surgery and a cancer risk

Given the man's age, the long-standing nature of his undescended testes, and the increased risk of testicular cancer, doctors decided on laparoscopic surgery to remove the Müllerian structures and both testes. Undescended testes are a known risk factor because sperm production requires a lower temperature than the body's core, and prolonged abdominal retention can damage testicular tissue.

The decision was also influenced by the severe damage already observed in the testicular tissue. Dr Kharbanda highlighted the importance of removing the undescended testes, stating that "If we have not removed them, in the future, you might develop cancer in those testicles."

Following the surgery, microscopic examination of the removed tissue uncovered another serious concern. The left testis showed Germ Cell Neoplasia In Situ (GCNIS), a pre-cancerous condition with the potential to develop into testicular cancer. While the right testis exhibited severe atrophy, no GCNIS was found there. Blood tests for common testicular tumour markers had been normal, underscoring that these markers alone do not always rule out early cancerous changes.

Multidisciplinary approach

This complex case required a multidisciplinary approach, with specialists from urology, radiology, pathology, reproductive medicine, and endocrinology collaborating to manage the patient's condition. The successful outcome reflects the hospital's ability to coordinate various medical fields.

The case also serves as a critical reminder of why unexplained infertility, especially when combined with bilateral undescended testes, warrants thorough investigation. A comprehensive evaluation involving imaging, genetic testing, and detailed tissue analysis can uncover hidden developmental conditions and associated health risks, such as potential malignancies.