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

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.