[From gene to disease: adrenogenital syndrome and the CYP21A2 gene].

Article

[From gene to disease: adrenogenital syndrome and the CYP21A2 gene].

Nederlands tijdschrift voor geneeskunde - 26 May 2007

Claahsen-van der Grinten H L, Hoefsloot L H

Abstract excerpt

Congenital adrenal hyperplasia (CAH) is a disorder of adrenal steroid synthesis. In more than 90% of cases CAH is caused by CYP21 (21-hydroxylase) deficiency leading to impaired cortisol and aldosterone synthesis and an increase in ACTH secretion. This then leads to stimulation of the adrenal gla...

Topics

17-alpha-Hydroxyprogesterone
Adrenal Hyperplasia, Congenital
Adrenogenital Syndrome
Androstenedione
Female
Humans
Male
Mutation
Steroid 21-Hydroxylase

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