J Korean Soc Pediatr Endocrinol.  2004 Dec;9(2):208-212.

A Case of Congenital Lipoid Adrenal Hyperplasia: Early Diagnosis by Using Computed Tomography

• Kwon JH
• Kim JY
• Kim HS
• Lee SW
• Yoo HW

Abstract

Congenital lipoid adrenal hyperplasia, the most severe form of congenital adrenal hyperplasia, is caused by mutations in the steroidogenic acute regulatory protien (StAR). It is characterized by failure of synthesis of all three classes of adrenal steroids and massive accumulation of lipids and cholesterol in the adrenal cortex. The computed tomography (CT) unequivocally delineated massively enlarged adrenal glands of fat-tissue attenuation, enabling early diagnosis and replacement therapy. We report a case of congenital lipoid adrenal hyperplasia, in which CT established that lipoid deposition at the adrenal cortex disappeared after the adrenal hormone replacement therapy.

Keyword

Congenital lipoid adrenal hyperplasia; Computed tomography

MeSH Terms

Adrenal Cortex
Adrenal Glands
Adrenal Hyperplasia, Congenital
Cholesterol
Early Diagnosis*
Hormone Replacement Therapy
Hyperplasia*
Steroids
Cholesterol
Steroids