ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: J Clin Endocrinol Metab. 2018; 103(11): 4043–4088.Since the publication of the 2010 Endocrine Society clinical practice guideline for Congenital Adrenal Hyperplasia (CAH) due to 21-hydroxylase deficiency, there have been several advances in the diagnosis and management of the condition. Neonatal diagnosis methods have been refined to use gestational age in...

Brief Summary: This phase 3, multinational, randomized clinical trial (CAHtalyst, NCT04806451) in pediatric patients with CAH, evaluated the efficacy of crinecerfont to improve androgen control and enable GC dose reduction to a physiological range.Comment: Congenital adrenal hyperplasia (CAH) comprises several rare autosomal recessive conditions resulting in disordered adrenal steroidogenesis. Pathogenic variants in the CYP21A2 gene encoding ste...