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] Mehrian Jafarizade, M.D [2]

Overview

Patients with 21-hydroxylase deficient congenital adrenal hyperplasia usually appear underweight and dehydrated. Physical examination is usually remarkable for hypotension and virilization.

Physical Examination

Common physical examination findings of 21-hydroxylase deficient congenital adrenal hyperplasia include:

Appearance

• Infants will be both underweight and dehydrated by appearance.
• Children before puberty will have tall stature, increased muscle mass, acne, and adult body odor.

Vitals

• Hypotension

Head

• Hirsutism

Genitals

• Female in classic type: Genital ambiguity, labial fusion

Deep voice, Male-typical cognitive pattern (better performance on spatial tasks, worse performance on verbal tasks), Infertility Alopecia Primary amenorrhea, Acne, menstrual irregularity in young women

• Male: Normal appearing at birth(mostly)

, Penile enlargement, Testicular mass, hyperpigmentation of the scrotum, Early virilization at two to four years of age with (pubic hair, growth spurt, adult body odor).

• Female in non-classic type: Clitoromegaly

Genital ambiguity