India
oi-Madhuri Adnal
A 26-year-old man who went to doctors for infertility treatment was diagnosed with a rare congenital condition after scans revealed a uterus and structures resembling fallopian tubes inside his body.
The condition, known as Persistent Müllerian Duct Syndrome (PMDS), was discovered while doctors were investigating primary infertility and azoospermia, a condition in which there are no sperm in the semen.
A 26-year-old man was diagnosed with Persistent MÜllerian Duct Syndrome (PMDS) after scans revealed internal uterus and fallopian tube-like structures alongside his 46,XY chromosomes and undescended testes; doctors removed the structures and testes, finding pre-cancerous changes in one.
Doctors at RG Hospitals in Rajouri Garden said the man has a 46,XY chromosome pattern. Both his testes were also undescended and had remained inside his abdomen.
An MRI scan provided the first major clue. It showed a uterus-like structure and two tubular structures that appeared similar to fallopian tubes. Doctors then carried out genetic tests and other investigations, which confirmed the rare condition.
What Is PMDS?
Persistent Müllerian Duct Syndrome is a rare condition in which Müllerian structures, such as the uterus and fallopian tubes, remain in a person who has male chromosomes and male physical development.
The condition is extremely uncommon. Fewer than 300 cases have been reported in medical literature. It is usually detected during childhood when doctors investigate an undescended testis.
What made this case unusual was that the condition had gone undetected until the man reached adulthood.
Why Was The Man Undergoing Tests?
The patient had approached doctors because of infertility. Tests showed azoospermia, meaning no sperm could be found in his semen.
Since both his testes were undescended, doctors carried out detailed imaging and genetic testing to understand the cause.
The MRI revealed the unexpected presence of the uterus-like and fallopian tube-like structures in the pelvis. Genetic testing showed the 46,XY chromosome pattern, leading doctors to diagnose PMDS.
Doctors Removed The Structures And Both Testes
Given the patient’s age, the condition of his testes and the potential risk of cancer, doctors decided to remove the abnormal Müllerian structures as well as both severely damaged testes.
The procedure was carried out using laparoscopic surgery.
“Considering the patient’s age, long-standing undescended testes, severe testicular damage and increased risk of testicular cancer, the surgical team removed the abnormal Müllerian structures and both testes through laparoscopic surgery,” Dr Susheel Kharbanda, chief urologist at RG Hospitals, told PTI.
Pre-Cancerous Changes Found In Left Testis
The examination of the removed tissue revealed another concern.
Doctors found Germ Cell Neoplasia In Situ (GCNIS) in the left testis. It is a pre-cancerous condition that can potentially develop into testicular cancer.
The right testis had severe atrophy, but there was no evidence of GCNIS.
Interestingly, blood tests for common testicular tumour markers were normal.
Doctors said the case shows why unexplained infertility needs careful investigation, particularly when a patient also has undescended testes.
