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. Androgen excess in childhood leads to pseudoprecocious puberty, accelerated childhood growth with premature epiphyseal fusion, which causes an overall short stature, and various metabolic abnormalities. Adults may also face fertility issues, both in classic and non-classic forms of 21-hydroxylase deficiency. Testicular adrenal rest tumors(nodular hyperplasia arising from cells that have many characteristics of adrenocortical cells and migrated with the testis during fetal development) may also occurr and patients with 21-hydroxylase deficiency require monitoring for these tumors. These tumors indicate poor disease control and are usually reversible with optimum 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.