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

• Main Authors: Zuzanna Szczepaniak (Author), Agata Konopka (Author), Natalia Wdowiak (Author), Karina Lissak (Author), Małgorzata Komarów (Author), Martyna Choinka (Author), Dominika Karasińska (Author), Jakub Kalisiak (Author)
• Format: Book
• Published: Nicolaus Copernicus University in Toruń, 2024-09-01T00:00:00Z.
• Subjects: article
• Online Access: 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...