21-hydroxylase deficiency physical examination

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency Microchapters
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Physical Examination

Appearance

• When brought to a hospital, the 1-3 week old infant will be both underweight and dehydrated by appearance.
• Childhood onset (simple virilizing) CAH: Tall stature and accelerated bone age (often 3-5 years ahead) are seen. Often present are increased muscle mass, acne, and adult body odor.

Vitals

• Blood pressure may be low in salt-wasting crises in infancy

Head

• Hirsutism

Miscellanous

• Childhood onset (simple virilizing) CAH: In boys the penis will be enlarged. Mild clitoral enlargement may occur in girls, and sometimes a degree of prenatal virilization is recognized that may have gone unnoticed in infancy.