Persistent Müllerian Duct Syndrome: A Rare But Important Etiology of Inguinal Hernia and Cryptorchidism

Area of Science:

• Genetics
• Endocrinology
• Pediatric Surgery

Background:

• Persistent Müllerian duct syndrome (PMDS) is a rare disorder where individuals with 46,XY karyotype possess female internal reproductive organs.
• It arises from homozygous loss-of-function mutations in anti-Müllerian hormone (AMH) or its receptor (AMHRII), crucial for Müllerian duct regression during male fetal development.

Purpose of the Study:

• To report on four cases of PMDS presenting with cryptorchidism and inguinal hernia.
• To describe the surgical management and molecular findings in these patients.
• To emphasize the importance of recognizing PMDS in virilized 46,XY individuals with specific clinical signs.

Main Methods:

• Laparoscopic inguinal exploration to identify Müllerian remnants.
• Surgical correction involving a single-stage laparotomy to release testes.
• Genetic analysis to identify mutations in AMH and AMHRII genes.

Main Results:

• Four patients with PMDS presented with cryptorchidism and inguinal hernia, revealing Müllerian remnants.
• Three patients had homozygous AMH gene mutations, including a novel mutation (c.1673G>A; p.Gly558Asp).
• One patient had an AMHRII mutation. All underwent successful surgical release of testes without complications.

Conclusions:

• Cryptorchidism and inguinal hernia in virilized 46,XY individuals can indicate PMDS.
• Genetic testing for AMH/AMHRII mutations is essential for diagnosis.
• Long-term reproductive and endocrinological surveillance is necessary for PMDS patients.