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.

How to use cases

You can use Radiopaedia cases in a variety of ways to help you learn and teach.

Creating your own cases is easy.

Updating… Please wait.

 Unable to process the form. Check for errors and try again.

 Thank you for updating your details.