[Congenital adrenal hyperplasia].
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is a group of autosomal disorders of the adrenal cortex characterised by cortisol deficiency, with or without aldosterone deficiency, and androgen excess. Congenital adrenal hyperplasia shows a range of severity. The severe classic form occurs in one in 15000 births worldwide, and the mild non classic form is a common cause of hyperandrogenism. Neonatal screening for congenital adrenal hyperplasia and gene specific prenatal diagnosis is now possible. Standard hormone replacement fails to achieve normal growth and development for many children with congenital adrenal hyperplasia, and adults could experience hyperandrogenism, infertility, and metabolic syndrome.
Bouvattier
Claire
C
Endocrinologie pédiatrique, hôpital Saint-Vincent-de-Paul, 75679 Paris. c.bouvattier@svp.ap-hop-paris.fr
Chatelain
Pierre
P
D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology / Q000628:therapy*; D047808:Adrenogenital Syndrome / Q000209:etiology; D005260:Female; D006801:Humans; D008297:Male; D013255:Steroid 21-Hydroxylase / Q000235:genetics
D013255:Steroid 21-Hydroxylase