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[Persistent mullerian duct syndrome : Rare incidental finding during treatment of pediatric inguinal hernia]
1Abteilung für Kinderchirurgie, Klinik und Poliklinik für Allgemein-, Viszeral-, Gefäß- und Kinderchirurgie (Chirurgie I), Zentrum Operative Medizin, Klinikum der Bayerische Julius-Maximilians-Universität, Oberdürrbacher Straße 6, 97080, Würzburg, Deutschland.
Background:
Persistent mullerian duct syndrome (PMDS) is a rare, autosomal recessive disorder. It is a form of male disorder of sexual differentiation in which mullerian duct structures are present in male phenotypes and 46XY karyotypes. In affected individuals, uterus, fallopian tubes, cervix and vagina are present.
Methods:
A 2-month-old boy was admitted to hospital with a right-sided inguinal hernia. The physical examination showed a phenotypically normal boy with a right sided indirect inguinal hernia and impalpable testis. During herniotomy, a uterus and two fallopian tubes were found in the pelvic peritoneum adjacent to the two gonads. Initial biopsies were taken from the gonads and blood was sent for karyotyping.
Results:
The biopsy showed normal testicular tissue without any ovarian tissue and the karyotyping result was 46XY; therefore, the diagnosis of persistent mullerian duct syndrome (PMDS) was made. In a second laparoscopically assisted operation the uterus and fallopian tubes were dissected, an orchidopexy of the left testis and an orchiectomy of the right testis were performed. The postoperative course was uneventful.
Conclusion:
In the case of an incarcerated inguinal hernia in combination with impalpable testis, a PMDS should be considered as a differential diagnosis.
Insights
Persistent Mullerian Duct Syndrome (PMDS) is a rare disorder where males have female internal reproductive organs. Early diagnosis is key, especially with inguinal hernias and undescended testes.
Area of Science:
- Reproductive Medicine
- Pediatric Surgery
- Genetics
Background:
- Persistent Mullerian Duct Syndrome (PMDS) is a rare autosomal recessive disorder causing male 46XY individuals to possess female internal reproductive structures.
- Affected individuals present with uterus, fallopian tubes, cervix, and vagina alongside male external genitalia.
Observation:
- A 2-month-old male infant presented with a right inguinal hernia and an impalpable testis.
- Surgical exploration revealed a uterus and fallopian tubes within the pelvic peritoneum, adjacent to the gonads.
Findings:
- Biopsies confirmed normal testicular tissue without ovarian tissue.
- Karyotyping revealed a 46XY karyotype, leading to the diagnosis of PMDS.
- Surgical management included dissection of Müllerian structures, orchidopexy, and orchiectomy.
Implications:
- PMDS should be considered in the differential diagnosis of incarcerated inguinal hernias with impalpable testes in infants.
- This case highlights the importance of thorough evaluation in pediatric patients with congenital anomalies.
- Early recognition and surgical intervention are crucial for managing PMDS and associated complications.
