Under Hyperplasia section from Endocrine Society published on 2018 Congenital Adrenal Hyperplasia (CAH) is a group of autosomal disorders characterized by impaired cortisol synthesis. The most common form of CAH is caused by a mutation in the gene encoding the adrenal steroid 21-hydroxylase enzyme. The deficiency of this enzyme accounts for approximately 95% of CAH, thereby demanding the need for these guidelines.
What Is This Guideline About? The current guideline aims to provide evidence-based recommendations, screening, diagnosis, treatment and long-term management of patients with classic and non-classic congenital adrenal hyperplasia. The recommendations are divided into the following sections: Newborn screening Prenatal treatment of congenital adrenal hyperplasia Diagnosis of congenital adrenal hyperplasia Treatment of classic congenital adrenal hyperplasia Treatment of…
