Transverse testicular ectopia with persistent mullerian duct syndrome

Area of Science:

• Pediatric Endocrinology
• Urology
• Genetics

Background:

• Persistent Mullerian Duct Syndrome (PMDS) is a rare disorder of sexual development characterized by the presence of Müllerian duct remnants in phenotypically normal males, typically due to mutations in the Müllerian Inhibiting Factor (MIF) gene.
• Transverse Testicular Ectopia (TTE) is an uncommon congenital anomaly where both testes are found in the same inguinal canal or scrotum.
• The co-occurrence of PMDS and TTE is exceptionally rare, presenting unique diagnostic and surgical challenges.

Observation:

• A 1-year-old child presented with a non-palpable right testis and a left-sided inguinal hernia.
• Clinical examination and subsequent investigations revealed findings consistent with both Persistent Mullerian Duct Syndrome and Transverse Testicular Ectopia.
• The patient had a normal male karyotype despite the presence of Müllerian duct structures.

Findings:

• Surgical exploration confirmed the presence of Müllerian duct remnants (uterus and fallopian tubes) and bilateral testes located within the left inguinal canal, indicative of PMDS with TTE.
• The surgical intervention involved a left herniotomy to address the inguinal hernia and bilateral trans-septal orchidopexy to reposition the testes within their respective scrotal compartments.
• Histopathological examination of the removed Müllerian structures and testes was consistent with the diagnosis.

Implications:

• This case underscores the importance of considering rare congenital anomalies in pediatric patients presenting with ambiguous genitalia or testicular abnormalities.
• The successful surgical management demonstrates the feasibility of correcting these complex anatomical abnormalities, aiming to preserve testicular function and optimize cosmetic outcomes.
• Further research into the genetic and developmental pathways underlying the co-occurrence of PMDS and TTE may provide insights into male reproductive system development.