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[A case of persistent Mullerian duct syndrome diagnosed by laparoscopic examination for impalpable testis]
Daisuke Goto1, Katsuya Aoki, Kenji Otsuka
1The Department of Urology, Nara Medical University, Japan.
Insights
Persistent Mullerian Duct Syndrome (PMDS) is a rare disorder where XY males have internal female reproductive structures. This case highlights diagnosis and surgical management in an infant with undescended testes and inguinal hernia.
Area of Science:
- Pediatric Surgery
- Endocrinology
- Genetics
Background:
- Persistent Mullerian Duct Syndrome (PMDS) is a rare disorder of sex development in 46,XY individuals.
- It is characterized by the presence of Müllerian duct remnants (uterus, fallopian tubes, or vas deferens) in otherwise phenotypically normal males.
- This condition often presents with associated anomalies such as cryptorchidism and inguinal hernias.
Observation:
- A 7-month-old boy presented with a left inguinal hernia, a left undescended testis, and a right impalpable testis.
- Laparoscopy revealed Müllerian duct remnants along the left spermatic cord and a right intra-abdominal testis.
- The Müllerian duct remnant was preserved to protect the left spermatic duct.
Findings:
- Surgical intervention included left orchiopexy and a staged laparoscopic Fowler-Stephens orchiopexy for the right testis.
- Karyotyping confirmed a 46,XY karyotype.
- The patient was diagnosed with Persistent Mullerian Duct Syndrome.
Implications:
- This case underscores the importance of laparoscopic evaluation for diagnosing PMDS in infants with cryptorchidism and hernias.
- Preservation of Müllerian duct remnants, when feasible, is crucial for maintaining spermatic cord integrity.
- Optimal surgical strategies, including staged orchiopexy, are essential for managing associated testicular maldescents in PMDS.
Abstract:
Persistent mullerian duct syndrome describes a group of patients with a 46 XY karyotype and normal male external genitalia, but internal mullerian structures. A 7-month-old boy presented with a left inguinal hernia, a left undescended testis and a right impalpable testis. Inguinal herniorrhaphy was performed and laparoscopy was done for search of a right impalpable testis and internal genitalia simultaneously. Laparoscopic examination revealed the structure like a mullerian duct remnant along the left spermatic duct in rectovesical fossa and right intra-abdominal testis. The structure like a mullerian duct remnant was not removed to preserve the left spermatic duct. Left orchiopexy and right laparoscopic staged Fowler- Stephens orchiopexy were performed. Chromosomal analysis was 46 XY karyotype and we diagnosed this case as persistent mullerian duct syndrome.
