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Molecular Diagnosis of Steroid 21-Hydroxylase Deficiency: A Practical Approach

Adrenal insufficiency in paediatric patients is mostly due to congenital adrenal hyperplasia (CAH), a severe monogenic disease caused by steroid 21-hydroxylase deficiency (21-OHD, encoded by the CYP21A2 gene) in 95% of cases. CYP21A2 genotyping requires careful analyses that guaranty gene-specific P...

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Главные авторы: María Arriba, Begoña Ezquieta
Формат: Artigo
Язык:Inglês
Опубликовано: Frontiers Media S.A. 2022-03-01
Серии:Frontiers in Endocrinology
Предметы:
ccongenital adrenal hyperplasia (CAH)
21-hydroxylase deficiency
CYP21A2 gene
classical forms of congenital adrenal hyperplasia
non-classical forms of congenital adrenal hyperplasia
molecular diagnosis
Online-ссылка:https://www.frontiersin.org/articles/10.3389/fendo.2022.834549/full
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