Congenital adrenal hyperplasia

Case contributed by Ahmed Mohamed Tobar


Neonate presenting with ambiguous genitalia.

Patient Data

Age: 1 month

Ultrasound shows bilaterally enlarged adrenal glands showing lobulated margins and cerebriform appearance. Pelvic examination reveals the presence of a uterus.

Case Discussion

A case of a neonate presenting with ambiguous genitalia. Ultrasound shows enlarged, lobulated adrenal glands bilaterally with the characteristic cerebriform appearance suggestive of congenital adrenal hyperplasia. Pelvic ultrasound reveals the presence of a uterus suggesting a case of female pseudohermaphroditism with virilization. The diagnosis was confirmed with karyotyping of 46xx and high levels of 17-OH progesterone laboratory values.

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