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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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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).