Clinical, Biochemical and Molecular Characteristics of Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency

Clinical, Biochemical and Molecular Characteristics of Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency

Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease caused by the deficiency of one of the enzymes involved in cortisol synthesis. Between 90% and 99% of cases of CAH are caused by 21-hydroxylase deficiency (21-OHD) caused by mutations in CYP21A2. Although 21-OHD has been historic...

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Bibliographic Details
Main Authors: Sevinç Odabaşı Güneş, Havva Nur Peltek Kendirci, Edip Ünal, Ayşe Derya Buluş, İsmail Dündar, Zeynep Şıklar
Format: Article
Language:English
Published: Galenos Yayincilik 2025-01-01
Series:JCRPE
Subjects:
congenital adrenal hyperplasia
21-hydroxylase deficiency
children
adolescent
diagnosis
Online Access:https://jag.journalagent.com/z4/download_fulltext.asp?pdir=jcrpe&un=JCRPE-15238
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