Congenital Adrenal Hyperplasia: A Review of Current Knowledge and Future Directions

• Główni autorzy: Zuzanna Szczepaniak (Autor), Agata Konopka (Autor), Natalia Wdowiak (Autor), Karina Lissak (Autor), Małgorzata Komarów (Autor), Martyna Choinka (Autor), Dominika Karasińska (Autor), Jakub Kalisiak (Autor)
• Format: Książka
• Wydane: Nicolaus Copernicus University in Toruń, 2024-09-01T00:00:00Z.
• Hasła przedmiotowe: article
• Dostęp online: Connect to this object online.

Introduction: Congenital adrenal hyperplasia (CAH) is a group of diseases in which genetic defects occur that disturb the synthesis of cortisol. The most common variant of CAH (95%-99%) is caused by 21-hydroxylase deficiency as a result of mutations in the CYP21A2 gene and is one of the most common...