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] Associate Editor(s)-in-Chief: Ahmad Al Maradni, 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

Appearance

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

Vitals

• Hypotension

Head

• Hirsutism

Genitals

• Genital ambiguity<ref name="Peltek Kendirci, Havva Nur et al. 'A Rare Combination: Congenital Adrenal Hyperplasia Due To 21 Hydroxylase Deficiency And Turner Syndrome'. Journal of Clinical Research in Pediatric Endocrinology 4.4 (2012): 213-215. Web>
• Penile enlargement
• Clitoral enlargement

Genital ambiguity