Congenital Adrenal Hyperplasia – A Comprehensive Review of Genetic Studies on 21-Hydroxylase Deficiency from India

Congenital Adrenal Hyperplasia – A Comprehensive Review of Genetic Studies on 21-Hydroxylase Deficiency from India

Congenital adrenal hyperplasia (CAH) comprises a heterogeneous group of autosomal recessive disorders impairing adrenal steroidogenesis. Most cases are caused by mutations in the CYP21A2 gene resulting in 21-hydroxylase (21-OH) deficiency (21-OHD). The genetics of 21-OH CAH is complexed by a highly...

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Bibliographic Details
Main Authors: Lavanya Ravichandran, Hesarghatta S. Asha, Sarah Mathai, Nihal Thomas, Aaron Chapla
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2024-04-01
Series:Indian Journal of Endocrinology and Metabolism
Subjects:
21-hydroxylase deficiency
congenital adrenal hyperplasia
cyp21a2
genetic testing
india
Online Access:https://journals.lww.com/10.4103/ijem.ijem_303_23

Internet

https://journals.lww.com/10.4103/ijem.ijem_303_23

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