11β-hydroxylase deficiency physical examination

	Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency Microchapters
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mehrian Jafarizade, M.D [2]

Overview

Patients with congenital adrenal hyperplasia due to 11β-hydroxylase deficiency usually appear healthy. Physical examination of patients with congenital adrenal hyperplasia due to 11β-hydroxylase deficiency is usually remarkable for gynaecomastia, hyperpigmentation, hypertension, and ambigous genitalia.

Physical Examination

Appearance of the Patient

Gynaecomastia
Short stature

Vital Signs

Hypertension

Head

Hirsutism
Alopecia
Deep voice
Acne

Skin

Genitals

Female in:
- Genital ambiguity
- Labial fusion
- Clitoromegaly

Male:
- Penile enlargement
- Hyperpigmentation of the scrotum
- Testicular mass
- Early virilization at two to four years of age with (pubic hair, growth spurt, adult body odor).^[1]^[2]^[3]

References

↑ El-Maouche D, Arlt W, Merke DP (2017). "Congenital adrenal hyperplasia". Lancet. doi:10.1016/S0140-6736(17)31431-9. PMID 28576284.
↑ Zachmann M, Tassinari D, Prader A (1983). "Clinical and biochemical variability of congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency. A study of 25 patients". J. Clin. Endocrinol. Metab. 56 (2): 222–9. doi:10.1210/jcem-56-2-222. PMID 6296182.
↑ Zadik Z, Kahana L, Kaufman H, Benderli A, Hochberg Z (1984). "Salt loss in hypertensive form of congenital adrenal hyperplasia (11-beta-hydroxylase deficiency)". J. Clin. Endocrinol. Metab. 58 (2): 384–7. doi:10.1210/jcem-58-2-384. PMID 6607265.

[pmid28576284-1] El-Maouche D, Arlt W, Merke DP (2017). "Congenital adrenal hyperplasia". Lancet. doi:10.1016/S0140-6736(17)31431-9. PMID 28576284.

[pmid6296182-2] Zachmann M, Tassinari D, Prader A (1983). "Clinical and biochemical variability of congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency. A study of 25 patients". J. Clin. Endocrinol. Metab. 56 (2): 222–9. doi:10.1210/jcem-56-2-222. PMID 6296182.

[pmid6607265-3] Zadik Z, Kahana L, Kaufman H, Benderli A, Hochberg Z (1984). "Salt loss in hypertensive form of congenital adrenal hyperplasia (11-beta-hydroxylase deficiency)". J. Clin. Endocrinol. Metab. 58 (2): 384–7. doi:10.1210/jcem-58-2-384. PMID 6607265.

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