Bobadilla MOPV, Demesa AR, Valdés LA, García RJF, Núñez HJA

Language: Spanish
References: 8
Page: 3-8
PDF size: 266.03 Kb.

ABSTRACT

The congenital adrenal hyperplasia it produced by autosomical recessive disorders in the cortisol and aldosterone synthesis, includes five different enzymatic disorders; the most common is due to deficiency of 21-hydroxylase (90-95%), with an incidence of 1 in 20,000 births in the classical variety. Classical congenital adrenal hyperplasia due to wasting salt variety usually initiate with a clinical picture at 7 or 14 days of life with an adrenal crisis characterized by hyponatremia, hyperkalemia and hypoglycemia. The diagnostic gold standard for neonatal screening is possible by detection of persistently elevated 17-hydroxyprogesterone. Current treatment of classic congenital adrenal hyperplasia aims to provide adequate glucocorticoid and, when necessary, mineralocorticoid substitution to prevent adrenal crises and to suppress the excessive secretion of CRH and ACTH, thereby reducing circulating concentrations of adrenal androgens and steroid precursor.

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