Congenital Adrenal Hyperplasia

  • Etiology: 46XX disorder of sexual development, defect in adrenal steroidogenesis, androgen excess in utero leads to masculinization, most common cause is 21-hydroxylase deficiency
  • Imaging: diffusely enlarged adrenal glands which are cerebriform in appearance
  • Complications: potential medical emergency as salt-wasting type can be fatal
  • Clinical: 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.

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.