Introduction Adrenal enzyme deficiency resulting in increase in products proximally and decrease in products distally results in hyperplasia because there is an inability to produce the final adrenal end products (e.g. cortisol) so the pituitary stimulation is not shut off (e.g. ACTH) There are several types 21-hydroxylase deficiency 11-hydroxylase deficiency 17-hydroxylase deficiency Presentation depends on the location of the enzyme block 17-OH corticoids include 11-deoxycortisol and cortisone 17-ketosteroids include DHEA and androstenedione Treatment glucocorticoids mineralocorticoids (if deficient) sex hormones (if deficienct at time of puberty) 21-hydroxylase Deficiency Most common type Presentation ↑ 17-ketosteroids has weak androgen activity results in ambiguity of female genitalia at birth prococious puberty in both sexes ↑ 17-hydroxyprogesterone ↓ 17-hydroxycorticoids ↓ mineralocorticoids hyponatremic hypotension ↑ ACTH diffuse skin pigmentation 11-hydroxylase Deficiency Presentation ↑ 17-ketosteroids ambiguity of female genitalia at birth prococious puberty in both sexes ↑ 17-hydroxyprogesterone ↑ 17-hydroxycorticoids ↑ mineralocorticoids hypernatremic hypertension ↑ 11-deoxycorticosterone (a mineralocorticoid) ↓ aldosterone ↑ ACTH diffuse skin pigmentation 17-hydroxylase Deficiency Presentation ↓ 17-ketosteroids ambiguity of male genitalia at birth puberty delay in both sexes ↓ 17-hydroxyprogesterone ↓ 17-hydroxycorticoids ↑ mineralocorticoids hypernatremic hypertension ↑ ACTH diffuse skin pigmentation