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 deficient 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 precocious puberty in both sexes ↑ 17-hydroxyprogesterone ↓ 17-hydroxycorticoids ↓ mineralocorticoids hyponatremic hypotension ↑ ACTH diffuse skin pigmentation 11β-Hydroxylase Deficiency Clinical definition a form of congenital adrenal hyperplasia (CAH) secondary to 11β-hydroxylase deficiency Epidemiology incidence 1 in 100,000 live births demographic typically in Jewish and Moroccan ancestry Pathogenesis deficiency in 11β-hydroxylase prevents the conversion of 11-deoxycortisol to cortisol 11-deoxycorticosterone to corticosterone decreased cortisol levels leads to increased synthesis of ACTH in the pituitary which results in increased levels of 11-deoxycortisol and 11-deoxycorticosterone and therefore decreased aldosterone and cortisol levels increased sex steroid synthesis adrenocortical hyperplasia Presentation ambiguous female genitalia at birth e.g., clitoral enlargement and labioscrotal fusion hypertension and hypokalemia secondary to increased 11-deoxycorticosterone if not diagnosed at birth signs of premature adrenarche e.g., body odor and axillary and pubic hair growth 17-Hydroxylase Deficiency Presentation ↓ 17-ketosteroids ambiguity of male genitalia at birth puberty delay in both sexes ↓ 17-hydroxyprogesterone ↓ 17-hydroxycorticoids ↑ mineralocorticoids hypernatremic hypokalemic hypertension ↑ ACTH diffuse skin pigmentation