Variants of Congenital Adrenal Hyperplasia
Variant Gene Impact on Steroid Synthesis Diagnostic Marker Steroids in Serum (and Urine)
21-Hydroxylase deficiency (21OHD) CYP21A2 Glucocorticoid deficiency, mineralocorticoid deficiency, adrenal androgen excess 17-Hydroxyprogesterone, 21-deoxycortisol (pregnanetriol, 17-hydroxypregnanolone, pregnanetriolone)
11beta-Hydroxylase deficiency (11OHD) CYP11B1 Glucocorticoid deficiency, mineralocorticoid excess, adrenal androgen excess 11-Deoxycortisol, 11-deoxycorticosterone (tetrahydro-11-deoxycortisol, tetrahydro-11-deoxycorticosterone)
17alpha-Hydroxylase deficiency (17OHD) CYP17A1 (Glucocorticoid deficiency), mineralocorticoid excess, androgen deficiency 11-Deoxycorticosterone, corticosterone, pregnenolone, progesterone (tetrahydro-11-deoxycorticosterone, tetrahydrocorticosterone, pregnenediol, pregnanediol)
3beta-Hydroxysteroid dehydrogenase deficiency (3bHSDD) HSD3B2 Glucocorticoid deficiency, (mineralocorticoid deficiency), adrenal androgen excess 17-Hydroxypregnanolone (pregnanetriol)
P450 oxidoreductase deficiency (ORD) POR Glucocorticoid deficiency, (mineralocorticoid excess), androgen deficiency, skeletal malformations Pregnenolone, progesterone, 17-hydroxyprogesterone (pregnanediol, pregnanetriol)