Persistent Müllerian Duct Syndrome (PMDS): a Rare Anomaly the General Surgeon Must Know About

Area of Science:

• Urology
• Endocrinology
• Pediatric Surgery

Background:

• Persistent Müllerian duct syndrome (PMDS) is a rare intersex condition where individuals with male external genitalia possess Müllerian duct remnants (uterus, fallopian tubes).
• In India, delayed diagnosis is common due to limited healthcare access, leading to presentation in adult males with complications like inguinal hernias and undescended testes.

Purpose of the Study:

• To highlight the importance of recognizing Persistent Müllerian duct syndrome in phenotypic males presenting with common surgical conditions.
• To emphasize the need for high suspicion and awareness among surgeons managing inguinal hernias and undescended testes.

Main Methods:

• Case report of two adult phenotypic males diagnosed with Persistent Müllerian duct syndrome.
• Intraoperative findings included uterus and fallopian tubes in both patients.
• Surgical management involved subtotal hysterectomy, preservation of vas deferens, inguinal hernia repair, and orchiopexy.

Main Results:

• Two adult phenotypic males presented with inguinal hernia and undescended testis, revealing uterus and fallopian tubes during surgery.
• Both patients underwent successful subtotal hysterectomy with preservation of vas, hernia repair, and testicular fixation.

Conclusions:

• Persistent Müllerian duct syndrome, though rare, must be considered in phenotypic males with inguinal hernias or undescended testes.
• Early diagnosis and surgical management are vital for preserving fertility and mitigating the risk of malignancy in remnant Müllerian structures.