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Congenital adrenal hyperplasia HY
1.
Congenital adrenal hyperplasia Enzyme deficiency Mineralocorticoids
Glucocorticoids Androgens Symptoms 11β- hydroxylase ↑* ↓ ↑ • Hypertension, ↓ K+ • Ambiguous genitalia in girls 17α- hydroxylase ↑ ↑** ↓ • Hypertension, ↓ K+ • Ambiguous genitalia in boys • Absent puberty 21- hydroxylase ↓ ↓ ↑ • Salt wasting (vomiting, hypotension, ↓ Na+, ↑ K+) • Ambiguous genitalia in girls *Low aldosterone but excessive weak mineralocorticoid (11-deoxycorticosterone). **Low cortisol but excessive weak glucocorticoid (corticosterone).
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