21-Hydroxylase-Deficiency (21 OHD) is the most common form of congenital adrenal hyperplasia (CAH), a group of rare inherited autosomal recessive disorders caused by mutations in genes coding for enzymes involved in the synthesis of cortisol in the adrenal cortex. The enzyme 21-β hydroxylase is coded by CYP21A2 gene (Cytochrome P450 Family 21 Subfamily A Member 2) and mutations in this gene are present in almost 90-95% of cases of CAH with a frequency of 1 to 15000 1. The disease is commonly distinguished in two forms according to the severity of the enzyme deficiency: a classic form with early clinical onset, and a non-classic form with milder clinical picture and late onset

21-Hydroxylase-Deficient congenital adrenal hyperplasia classic form therapy knowledge and management: targeted educational intervention for paediatricians

Gaudino, Rossella;Pecoraro, Luca;Martini, Lucia;Salvottini, Chiara;Antoniazzi, Franco;Piacentini, Giorgio;Cavarzere, Paolo
2021

Abstract

21-Hydroxylase-Deficiency (21 OHD) is the most common form of congenital adrenal hyperplasia (CAH), a group of rare inherited autosomal recessive disorders caused by mutations in genes coding for enzymes involved in the synthesis of cortisol in the adrenal cortex. The enzyme 21-β hydroxylase is coded by CYP21A2 gene (Cytochrome P450 Family 21 Subfamily A Member 2) and mutations in this gene are present in almost 90-95% of cases of CAH with a frequency of 1 to 15000 1. The disease is commonly distinguished in two forms according to the severity of the enzyme deficiency: a classic form with early clinical onset, and a non-classic form with milder clinical picture and late onset
21-Hydroxylase-Deficiency, Congenital Adrenal Hyperplasia Classic Form, adrenal crises, acute adrenal insufficiency.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11562/1031078
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