11β-hydroxylase deficiency natural history, complications and prognosis

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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

If left untreated, patients with 11β-hydroxylase deficiency may progress to develop malignant hypertension. Common complications of 11β-hydroxylase deficiency include muscle weakness, metabolic alkalosis, menstrual irregularities in women, acne, hirsutism, and infertility. Prognosis is generally good with treatment.

Natural History

If left untreated, patients with 11β-hydroxylase deficiency may progress to develop malignant hypertension.Untreated children progress into isosexual or contra-sexual pseudo-precocious puberty; early puberty in boys, acne and hirsutism in girls, menstrual irregularities in women, and infertility .^[1]^[2]

Complications

Complications of Hypertension

Complications of Hypokalemia

Other Complications

Prognosis

The prognosis of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency is generally good with treatment.^[1]^[2]

References

↑ ^1.0 ^1.1 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.
↑ ^2.0 ^2.1 El-Maouche D, Arlt W, Merke DP (2017). "Congenital adrenal hyperplasia". Lancet. doi:10.1016/S0140-6736(17)31431-9. PMID 28576284.

[pmid6296182-1] 1.0 ^1.1 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.

[pmid28576284-2] 2.0 ^2.1 El-Maouche D, Arlt W, Merke DP (2017). "Congenital adrenal hyperplasia". Lancet. doi:10.1016/S0140-6736(17)31431-9. PMID 28576284.

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