Co-existence of Congenital Adrenal Hyperplasia and Familial Hypokalemic Periodic Paralysis due to CYP21A2 and SCN4A Pathogenic Variants

• Váldodahkkit: Tuğba Kontbay (Dahkki), İhsan Turan (Dahkki)
• Materiálatiipa: Girji
• Almmustuhtton: Galenos Yayincilik, 2021-09-01T00:00:00Z.
• Fáttát: article
• Liŋkkat: Connect to this object online.

Steroid 21-hydroxylase deficiency is the most common cause of congenital adrenal hyperplasia (CAH), usually due to biallelic variants in CYP21A2. Classical 21-hydroxylase deficiency is characterised by virilisation of the external genitalia in females and hypocortisolism. Hyponatremia and hyperkalem...