Congenital Adrenal Hyperplasia in Children: Pathophysiology, Diagnosis and Management
Year: 2026
Type: article
Abstract: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders of adrenal steroid synthesis. More than 90% of cases are caused by 21-hydroxylase deficiency (21OHD), which impairs cortisol and, in most severe forms, aldosterone production while driving excess adrenal androgen output. Untreated classic CAH can cause life-threatening adrenal crisis in the neonatal period and virilization of affected girls. To review the genetics, pathophysiology, clinical presentation, diagnosis, treatment and long-term issues of CAH in children, with emphasis on 21OHD.
Source: Figshare
Author: Balamurugan KALAIMAVALAVAN
Language: English
Subfield: Endocrinology, Diabetes and Metabolism
Field: Medicine
Domain: Health Sciences
Open Access status: green
OpenAlex ID: W7225833806
FWCI:
Cites:
Cited by:
Related to: