Congenital adrenal hyperplasia.
The congenital adrenal hyperplasias are a group of autosomal recessive disorders associated with impaired steroidogenesis. Several types of the congenital adrenal hyperplasias are associated with decreased cortisol production and excessive adrenal sex steroid secretion. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is the most common and prototypic example of this group of disorders. Herein, we review the clinical features, pathophysiology, molecular genetics, and treatment of 21-hydroxylase deficiency. There is also a brief discussion of other steroidogenic enzyme defects that are associated with clinical features due to excessive androgen secretion.
Children's Hospital of Pittsburgh of UPMC, University of Pittsburgh, 3705 Fifth Avenue, Pittsburgh, Pennsylvania PA 15213, USA.
Cem
C
Demirci
Selma Feldman
SF
Witchel
D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D000728:Androgens / Q000378:metabolism / Q000502:physiology*; D006628:Hirsutism / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D006801:Humans
D000728:Androgens