Prevalence of CAH-X Syndrome in Italian Patients with Congenital Adrenal Hyperplasia (CAH) Due to 21-Hydroxylase Deficiency

Prevalence of CAH-X Syndrome in Italian Patients with Congenital Adrenal Hyperplasia (CAH) Due to 21-Hydroxylase Deficiency

21-hydroxylase deficiency (21OHD), the most common form of congenital adrenal hyperplasia (CAH), is associated with pathogenic variants in <i>CYP21A2</i> gene. The clinical form of the disease ranges from classic or severe to non-classic (NC) or mild late onset. The <i>CYP21A2</...

Full description

Bibliographic Details
Main Authors: Rosa Maria Paragliola, Alessia Perrucci, Laura Foca, Andrea Urbani, Paola Concolino
Format: Article
Language:English
Published: MDPI AG 2022-07-01
Series:Journal of Clinical Medicine
Subjects:
congenital adrenal hyperplasia
Ehlers–Danlos syndrome
CAH-X syndrome
Online Access:https://www.mdpi.com/2077-0383/11/13/3818

Internet

https://www.mdpi.com/2077-0383/11/13/3818

Similar Items