[Persistent mullerian duct syndrome. Presentation of a case]

Area of Science:

• Reproductive endocrinology
• Developmental biology
• Genetics

Background:

• Male sexual differentiation relies on testosterone and Müllerian inhibitor factor (MIF).
• Absence or dysfunction of MIF leads to Persistent Müllerian Duct Syndrome (PMDS), a rare intersex condition.
• PMDS results in male pseudohermaphroditism, where individuals possess both male and female internal reproductive structures.

Observation:

• A phenotypically male patient underwent surgery for bilateral cryptorchidism.
• Intraoperative findings revealed the presence of a uterus and fallopian tubes.
• These Müllerian remnants were surgically removed, and the testes were managed.

Findings:

• The patient presented with anatomical characteristics of PMDS despite appearing phenotypically male.
• Surgical intervention confirmed the presence of uterus and fallopian tubes, consistent with PMDS.
• Histopathological examination of the removed right testis indicated atrophy.

Implications:

• This case underscores the importance of considering PMDS in phenotypically male individuals with undescended testes.
• Accurate diagnosis and surgical management are crucial for addressing PMDS.
• Further research into the genetic and molecular underpinnings of MIF dysfunction can improve understanding and treatment of intersex variations.