Congenital Lipoid Adrenal Hyperplasia Developed in a Brother and Sister.
- Author:
In Hwan BAEK
1
;
Chun Soo KIM
Author Information
1. Department of Pediatrics, Keimyung University School of Medicine, Daegu, Korea. cskim@dsmc.or.kr
- Publication Type:Case Report
- Keywords:
Congenital lipoid adrenal hyperplasia;
Siblings
- MeSH:
Adrenal Insufficiency;
Death, Sudden;
Humans;
Hyperplasia;
Hypoglycemia;
Male;
Pigmentation;
Siblings
- From:Korean Journal of Perinatology
2010;21(2):191-195
- CountryRepublic of Korea
- Language:Korean
-
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.
