Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an endocrine society clinical practice guideline

Abstract

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 addition to birth weight for cut-point interpretation or to employ liquid chromatography–tandem mass spectrometry (LC-MS/MS) as a secondary screening test. The standard for confirming a diagnosis of CAH continues to be serum 17-hydroxyprogesterone (17OHP) concentrations, most often following cosyntropin stimulation. The advent of commercially available serum 21-deoxycortisol measurements may simplify identification of CAH carriers. New human and animal data convey further concerns regarding prenatal dexamethasone treatment. No international registry has yet been established for the long-term outcomes of individuals treated prenatally with dexamethasone. Although non-invasive prenatal diagnosis of fetal sex is now commonly performed, prenatal CAH genotyping has been reported only in a proof-of-concept study and is not routinely available.