Persistent Mullerian duct syndrome

Case contributed by Hani Makky Al Salam


A newborn phenotypically male with undescended testes.

Patient Data

Age: 1 day
Gender: Male

Ultrasound of the pelvis reveals the presence of uterus.

4 months later


Failure to visualize the uterus (most likely involuted due to the lack of the maternal hormone effect), and bilateral inguinal undescended testis are identified.

Case Discussion

Presumed diagnosis of persistent Mullerian duct syndrome (pseudohermaphroditism) in a baby boy with undescended testes and a well-structured uterus.

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