CHARACTERISTICS
3-beta-
11-beta
21-Hydroxylase Hydroxylase
17-alpha- Hydroxylase
Hydroxysteroid Dehydrogenase
Deficiency
Deficiency
Deficiency
Deficiency
Lipoid CAH
Incidence
1:10 to 18,000
1:100,000
Rare
Rare
Rare
Gene involved
CYP21
CYP1181
CYP17
Chromosomal location
6p21.3
8q24.3
10424.3
HSD382
1p13.1
Ambiguous genitalia
Yes in females
Adrenal crisis
Yes
Yes in females Rare
Yes in males
Yes in males
StAR 8p11.2 Yes in male
No
Yes
Yes (severe
Glucocorticoid values
Mineralocorticoid values
Androgens
Sodium concentrations
Potassium
concentrations
Metabolite elevated
17-OHP
DOC,
in females in males
DOC,
11-deoxycortisol corticosterone
DHEA,
None
17-hydroxypregnenolone
DHEA-dehydroepiandrosterone, DOC-deoxycorticosterone, 17-OHP-17-hydroxyprogesterone, StAR-steroidogenic acute regulatory protein