11β-hydroxylase deficiency natural history, complications and prognosis
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
- Vascular hemorrhage
- Renal insufficiency
- Left ventricular hypertrophy
- Hypertensive retinopathy
- Stroke
Complications of Hypokalemia
Other Complications
- Early puberty in boys
- Acne
- Hirsutism in girls
- Menstrual irregularities in women
- Azoospermia
- Oligospermia
- Infertility
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.
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