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Infertility Evaluation Reveals Rare Syndrome With Uterus, Undescended Testes
Doctors in Delhi examined a man who was having trouble fathering a child.
Tests showed that he had no sperm in his semen and that both testes were inside his abdomen.
Scans also showed a uterus-like organ and tube-like structures inside his body.
He had XY chromosomes and had been raised and lived as male.
Doctors suspected a very rare condition called Persistent Müllerian Duct Syndrome.
This condition can happen when some reproductive structures that usually disappear during male development remain in the body.
His testes were badly damaged because they had stayed inside the abdomen for a long time.
Doctors removed the unusual structures and both testes to reduce future cancer risks.
Reports differ on his exact age and on how the tissue findings were described, but both say the case was discovered during infertility testing.
Reports describe a 24- or 26-year-old man in Delhi diagnosed with Persistent Müllerian Duct Syndrome during infertility evaluation.
Imaging found a uterus or uterus-like structure and fallopian-tube-like structures alongside both testes inside the abdomen.
The patient had a 46,XY chromosome pattern, absent sperm in semen, and externally typical male features.
Laparoscopic surgery removed the Müllerian structures and both severely damaged, undescended testes because of cancer concerns.
Tissue examination found severe testicular atrophy; one report identified GCNIS, while another described slight features suggestive of malignancy.
- Who
- A man reported as 24 or 26 years old, treated by doctors including Dr Susheel Kharbanda and Dr Chirag Bhandari.
- What
- He was diagnosed with suspected Persistent Müllerian Duct Syndrome, involving Müllerian structures, undescended testes, and azoospermia.
- Where
- RG Hospitals in Rajouri Garden, New Delhi.
- When
- The condition was discovered during adulthood while he was being evaluated for infertility; the reports do not give a specific date.
- Why
- Infertility testing led to further investigation, while the undescended testes raised concerns about severe damage and future testicular cancer risk.
Fertility-focused view
Risk-reduction view
Possible fertility options
Fertility-focused view
Experts noted that PMDS does not automatically mean a person cannot father a child and that sperm could sometimes be extracted directly from the testes for assisted reproduction.
Risk-reduction view
In this case, the testes were severely damaged and atrophied, and the patient had azoospermia, limiting the reported fertility prospects.
Management of undescended testes
Fertility-focused view
A fertility-preserving approach could consider whether viable sperm remains before removing testes, where clinically appropriate.
Risk-reduction view
Doctors removed both abdominal testes because long-standing undescended testes carry an increased risk of testicular cancer, with tissue examination revealing concerning changes.
Key facts
- Condition
- Persistent Müllerian Duct Syndrome, an exceptionally rare congenital condition involving retained Müllerian structures in a person with a 46,XY pattern.
- Reported age
- The reports differ, describing the patient as 24 or 26 years old.
- Fertility finding
- Semen analysis showed azoospermia, meaning no sperm were found in the semen.
- Anatomy
- Imaging showed a uterus or uterus-like structure, fallopian-tube-like structures, and both testes inside the abdomen.
- Surgery
- Laparoscopic surgery removed the Müllerian structures and both undescended testes.
- Pathology
- Both testes were severely atrophied; one report identified Germ Cell Neoplasia In Situ, while another described slight features suggestive of malignancy.
- Rarity
- One report says fewer than 300 PMDS cases have been reported in medical literature.
Quotes
Dr Susheel Kharbanda
Doctor who performed the laparoscopic procedure
“This was an extremely unusual case because the patient came to us with infertility, and the underlying condition had remained undiagnosed until adulthood.”
rediff.com
“The testes were also severely atrophied, which was an important concern because undescended testes carry a higher risk of testicular cancer.”
rediff.com
Sources
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