A Case of Congenital Lipoid Adrenal Hyperplasia.
- Author:
Hae Kyung LEE
1
;
Dong Hwang LEE
;
Sang Jhoo LEE
Author Information
1. Department of Pediatrics, Soonchunhyang University, College of Medicine, Seoul, Korea.
- Publication Type:Case Report
- Keywords:
Congenital lipoid adrenal hyperplasia
- MeSH:
Adrenal Hyperplasia, Congenital;
Adrenocorticotropic Hormone;
Aldosterone;
Cholesterol;
Female;
Growth and Development;
Humans;
Hydrocortisone;
Hyperplasia*;
Lethargy;
Pregnenolone;
Skin Pigmentation;
Testosterone
- From:Journal of the Korean Pediatric Society
1995;38(4):567-573
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Congenital lipoid adrenal hyperplasia is the rarest type among salt losing types of congenital adrenal hyperplasia. The defect of this disorder is in the cholesterol side chain cleavage enzyme(P450SCC)which converts cholesterol to pregnenolone. W experienced a case of 20,22 desmolse deficiency in a 21-day old phenotypically female who was admitted to our hospital due to lethargy and dark skin pigmentation. The characteristic findings were decreased serum cortisol, aldosterone, testosterone, increased ACTH. The ACTH and hCG stimulation test were performed and there were no response. The sex chromosomal analysis showed made XY. One year later after hormone therapy, growth and development are normal.
