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

If left untreated, patients with 21-hydroxylase deficiency may progress to develop complications. Common complications of 21-hydroxylase deficient congenital adrenal hyperplasia include short stature, adrenal crisis, infertility, and precocious puberty. The prognosis of 21-hydroxylase deficiency is generally good with treatment.

Natural History

If left untreated, patients with 21-hydroxylase deficiency may progress to develop complications. Common complications of 21-hydroxylase deficient congenital adrenal hyperplasia include short stature, adrenal crisis, infertility, and precocious puberty. The prognosis of 21-hydroxylase deficiency is generally good with treatment.

Complications

Common complications associated with 21-hydroxylase deficiency include:^[1]^[2]

Prognosis

The prognosis of 21-hydroxylase deficiency is generally good with treatment.
A small percentage of children and adults with infancy or childhood onset 21 hydroxylase deficiency 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.^[1]^[2]

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.

[pmid20823466-1] 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.

[pmid15554889-2] 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.

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[2]