Rare type of congenital adrenal hyperplasia / 中华实用儿科临床杂志
Chinese Journal of Applied Clinical Pediatrics
;
(24): 570-574, 2015.
Article
in Chinese
| WPRIM
| ID: wpr-464627
ABSTRACT
Congenital adrenal hyperplasia (CAH) is an autosomal recessive genetic disease due to glucocorticoid biosynthesis enzyme deficiency,in addition to the common types such as 21-hydroxylase,11 β-hydroxylase deficiency,also include rare types such as 3 β-hydroxysteroid dehydrogenase deficiency,17α-hydroxylase deficiency and congenital lipoid adrenal hyperplasia (CLAH).These rare types of CAH have multiple clinical manifestations,which are easily missed or misdiagnosed.This article focus on molecular genetics,pathophysiology,clinical manifestations and treatment principles of above 3 rare types of CAH.
Full text:
Available
Index:
WPRIM (Western Pacific)
Language:
Chinese
Journal:
Chinese Journal of Applied Clinical Pediatrics
Year:
2015
Type:
Article
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