Keywords
Endocrinology
Pediatrics
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Abstract
Objective: To analyze the characteristics of Congenital Adrenal Hyperplasia (CAH). Bibliographc review: CAH comprises a group of autosomal recessive diseases caused by mutations in one of the genes that encode enzymes involved in adrenal steroidogenesis. It can result from failure of any of the enzymes involved in the steroid hormone synthesis cascade and the most common form is caused by steroid 21-hydroxylase (21-OHD) deficiency, affecting around 1:15,000 live births. The discrimination of CAH into Classical and Non-Classical forms is based on the degree of 21-hydroxylase deficiency, with classic CAH being subdivided into a salt-wasting form and a virilizing form. Final considerations: CAH is a genetic disease that has two main forms of presentation. Classic CAH, which is more severe and potentially fatal, can be diagnosed using the heel prick test in Brazil, which can prevent salt-wasting crises that represent the worst prognosis for the disease. Non-classical CAH is usually diagnosed during puberty or adolescence. The management of this condition is done through glucocorticoids, in view of all the complications of administering this medication.
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