Published: 25 March 2025
Author(s): André Saad Cleto, João Matheus Schirlo, Janete Machozeki, Camila Marinelli Martins
Issue: May 2025
Section: Letter to the Editor

Congenital adrenal hyperplasia (CAH) is an autosomal recessive genetic disease that leads to an enzyme deficiency, the main consequence of which is the reduction in the production of cortisol and aldosterone [1–3]. In 95 % of cases, the enzyme 21-hydroxylase is affected, something that leads to an increase in 17α-hydroxyprogesterone (17OHP) [1], which is one of the main diagnostic markers of CAH [4]. CAH is divided into 3 phenotypes: non-classical forms of CAH, which do not have a severe enzyme deficiency, and the classic forms “simple virilizing” (98 % loss of enzyme function) and “salt-wasting” (complete loss of enzymatic function) [1].

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