Progress in the diagnosis and treatment of congenital adrenal hyperplasia
10.3760/cma.j.issn.1673-4408.2014.01.017
- VernacularTitle:先天性肾上腺皮质增生症的诊断和治疗进展
- Author:
Ling LIANG
- Publication Type:Journal Article
- Keywords:
Congenital adrenal hyperplasia;
21-hydroxylase deficiency;
Glucocorticoid
- From:
International Journal of Pediatrics
2014;41(1):55-58
- CountryChina
- Language:Chinese
-
Abstract:
Congenital adrenal hyperplasia(CAH) is a family of autosomal recessive disorders.The most frequent form of the disease is steroid 21-hydroxylase deficiency,which accounts for more than 90％ of all cases of CAH.In the pathogenesis of CAH,the cortisol synthesis impairement leads to excessive ACTH secretion of the adrenal glands,which ultimately results in adrenal hyperplasia and androgen overproduction.CAH causes signs of androgen excess including ambiguous genitalia in newborn females and rapid postnatal growth in both sexes.In the most severesalt wasting form of CAH,concomitant aldosterone deficiency may lead to salt wasting with life-threatening adrenal crises.Newborn screening,especially in males,reduces morbidity and mortality from adrenal crises.Glucocorticoid replacement remains the cornerstone of treatment.However,how to make a suitable therapeutic regimen of CAH is still a challenge to the pediatric clinician.
