Newborn screening for congenital adrenal hyperplasia: beyond 17-hydroxyprogesterone concentrations
Journal Title: Jornal de Pediatria - Year 2019, Vol 95, Issue 3
Abstract
The Congenital Adrenal Hyperplasias (CAHs) comprise a group of autosomal recessive disorders due to defects in adrenal steroidogenesis. The most common is 21-hydroxylase deficiency due to mutations in the 21-hydroxylase (CYP21A2) gene. The clinical spectrum ranges from life-threatening adrenal insufficiency to minimal symptoms depending on the specific CYP21A2 mutations.1 The clinical phenotype generally reflects the functional activity of the mildest mutation. The prevalence of the classical forms, salt-losing and simple virilizing, differs among populations ranging from approximately 1 in 6000 in India to 1 in 19,000 in Japan.2 The prevalence of non-classic or mild CAH is higher and was reported to be 1 in 2000 among Caucasians in the United States.3
Authors and Affiliations
Selma Witchel
Keywords
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- EP ID EP575250
- DOI 10.1016/j.jped.2018.06.003
- Views 66
- Downloads 0
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