Korean J Perinatol.  2010 Jun;21(2):191-195.

Congenital Lipoid Adrenal Hyperplasia Developed in a Brother and Sister

• Baek IH
• Kim CS

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.

Keyword

Congenital lipoid adrenal hyperplasia; Siblings

MeSH Terms

Adrenal Insufficiency
Death, Sudden
Humans
Hyperplasia
Hypoglycemia
Male
Pigmentation
Siblings