Congenital Lipoid Adrenal Hyperplasia Developed in a Brother and Sister / 대한주산의학회잡지

ABSTRACT

Congenital lipoid adrenal hyperplasia (lipoid CAH) is an autosomal recessive disorder characterized by severe adrenal insufficiency. Clinical findings of patients are salt loss, hypoglycemia, pigmentation and male sex reversal. And also the baby with inadequate treatment may result in sudden death from adrenal crisis. We report the case of lipoid CAH developed in siblings with a brief review of associated literatures.