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