Abstract

Background: Persistent Mullerian duct syndrome (PMDS) is a rare condition that is characterized by the presence of the Mullerian duct structures and is phenotypically and genotypically male. It could result from insufficiency of Mullerian inhibiting factor (MIF) or its receptors.

Case presentation: A 9 month-old Syrian boy was admitted to Abha Maternity and Children Hospital with a previous history of a huge left inguinal swelling since 8 hours, vomiting 4 times, and with yellowish discharge. Routine examinations and investigations were done and the boy was diagnosed with left unilateral inguinal hernia with obstruction and during surgery left ovotestis with fallopian tubes and rudimentary uterus were detected. The histopathology showed no signs of malignancy. After two weeks from left inguinal hernia repair, the boy presented with right incarcerated hernia. The boy underwent right inguinal herniotomy and right gonadopexy. During the operation, right ovotestis, with vas and fallopian tube were detected. The tube was resected and the sac was dissected; vas and vessels were secured. The boy had no sexual dysfunction and chromosomal investigation showed normal male karyotype. The testosterone level was less than the normal range (0.087 nmol/l).

Conclusion: The PMDS is a rare condition and during early stages cannot be detected; the only diagnostic procedure is when the children are tested for other diseases such as hernia or cryptorchidism. The correct and early diagnosis depends on genetic investigation and endocrinology. Surgery is the treatment of choice.

Key words: Persistent Mullerian duct syndrome (PMDS), Obstructed inguinal hernia, male, Mullerian inhibiting factor, Mullerian duct derivatives.