Congenital Adrenal Hyperplasia

Etiology:
— 46XX disorder of sexual development
— Defect in adrenal steroidogenesis in which androgen excess in utero leads to masculinization
— Most common cause is 21-hydroxylase deficiency
Imaging: Diffusely enlarged adrenal glands which are cerebriform in shape
DDX: Normal neonatal adrenal gland is very large and has thick hypoechoic cortex and can be up to one third the size of kidney
Complications: Potential medical emergency as salt-wasting type can be fatal
Treatment:
Clinical:
— Most common cause of ambiguous genitalia
— Virilized female genitalia
— Female gender assignment
— Salt wasting in male

Radiology Cases of Congenital Adrenal Hyperplasia

US of congenital adrenal hyperplasia — Sagittal (above) and transverse (below) US of the kidneys shows enlarged hypoechoic lesions superior to the kidneys which have a triangular shape on sagittal images and a cerebriform shape on transverse images.

Radiology Cases of Congenital Adrenal Hyperplasia With Bilateral Testicular Adrenal Rests

US of congenital adrenal hyperplasia with bilateral testicular adrenal rests — Sagittal US of the bilateral testicles shows cerebriform appearing adrenal tissue within each testicle.

Clinical Cases of Congenital Adrenal Hyperplasia

Clinical image of congenital adrenal hyperplasia — Clinical image shows an enlarged clitoris that resembles a penis and a partially closed labia.