21-hydroxylase deficiency natural history, complications and prognosis
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Mehrian Jafarizade, M.D [2]
Overview
Common complications of 21-hydroxylase deficient congenital adrenal hyperplasia include short stature, adrenal crisis, infertility, and precocious puberty. The prognosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency is generally good with treatment.
Complications
Common complications associated with 21-hydroxylase deficient congenital adrenal hyperplasia include:[1][2]
Prognosis
- The prognosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency is generally good with treatment.[1][2]
- A small percentage of children and adults with infancy or childhood onset congenital adrenal hyperplasia die of adrenal crisis, even after diagnosis and initiation of treatment.
- When a person is well, missing a dose or even several doses, may not worsen the immediate symptoms. However, glucocorticoid needs are increased during illness and stress.
- Missed doses during time of illness can lead (within hours) to hypotension, shock, and death.
References
- ↑ 1.0 1.1 Speiser PW, Azziz R, Baskin LS, Ghizzoni L, Hensle TW, Merke DP, Meyer-Bahlburg HF, Miller WL, Montori VM, Oberfield SE, Ritzen M, White PC (2010). "Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline". J. Clin. Endocrinol. Metab. 95 (9): 4133–60. doi:10.1210/jc.2009-2631. PMC 2936060. PMID 20823466.
- ↑ 2.0 2.1 van der Kamp HJ, Wit JM (2004). "Neonatal screening for congenital adrenal hyperplasia". Eur. J. Endocrinol. 151 Suppl 3: U71–5. PMID 15554889.