Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society* Clinical Practice Guideline

2018/09/27 by Phyllis Speiser, Wiebke Arlt, Richard J. Auchus +8 · 4 citations
Biochemistry, Genetics and Molecular Biology · Medicine · #Sexual Differentiation and Disorders #Hormonal and reproductive studies #Metabolism and Genetic Disorders

paper · pdf · doi:10.1210/jc.2018-01865

openalex publication_date 2018/09/27 · openalex created_date 2025/10/10 · openalex updated_date 2026/08/04

Abstract

Newborn screening Cost-effectiveness 1.1 We recommend that all newborn screening programs incorporate screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency. (1|s) 1.2 We recommend that first-tier screens use 17hydroxyprogesterone assays standardized to a common technology with norms stratified by gestational age. (1|s) Technical remark: Clinicians should be aware that immunoassays are still in use and remain a source of false-positive results. Specificity may be improved with organic extraction to remove cross-reacting substances. 1.3 We recommend that screening laboratories employ a second-tier screen by liquid chromatographytandem mass spectrometry in preference to all other

Citations

• Testicular Adrenal Rest Tumors and Leydig and Sertoli Cell Function in Boys with Classical Congenital Adrenal Hyperplasia
• Results of Screening 1.9 Million Texas Newborns for 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
• Sodium chloride supplement at diagnosis and during infancy in children with salt-losing 21-hydroxylase deficiency
• Use of Steroid Profiling by UPLC-MS/MS as a Second Tier Test in Newborn Screening for Congenital Adrenal Hyperplasia: The Utah Experience
• What is the best approach to the teenage patient presenting with nonclassical Congenital adrenal hyperplasia: should we always treat with glucocorticoids?
• Prenatal Dexamethasone Treatment of Children at Risk for Congenital Adrenal Hyperplasia: The Swedish Experience and Standpoint
• Salt Wasting in Simple Virilizing Congenital Adrenal Hyperplasia
• Prenatal dexamethasone use for the prevention of virilization in pregnancies at risk for classical congenital adrenal hyperplasia because of 21‐hydroxylase (CYP21A2) deficiency: a systematic review and meta‐analyses
• Working memory performance is reduced in children with congenital adrenal hyperplasia
• Glucocorticoids, prenatal stress and the programming of disease
• Congenital Adrenal Hyperplasia Complicated by Central Precocious Puberty: Treatment with LHRH‐Agonist Analogue
• Benefits of Neonatal Screening for Congenital Adrenal Hyperplasia (21-Hydroxylase Deficiency) in Sweden
• GRADE guidelines: 1. Introduction—GRADE evidence profiles and summary of findings tables
• Effect of Newborn Screening for Congenital Adrenal Hyperplasia
• High frequency of adrenal myelolipomas and testicular adrenal rest tumours in adult Norwegian patients with classical congenital adrenal hyperplasia because of 21-hydroxylase deficiency
• Fertility, sexuality and testicular adrenal rest tumors in adult males with congenital adrenal hyperplasia
• Consensus Statement on Management of Intersex Disorders
• Cognitive outcome of offspring from dexamethasone-treated pregnancies at risk for congenital adrenal hyperplasia due to 21-hydroxylase deficiency
• Newborn Screening for Congenital Adrenal Hyperplasia inthe Netherlands
• Adrenal-derived 11-oxygenated 19-carbon steroids are the dominant androgens in classic 21-hydroxylase deficiency
• Blood Pressure in a Large Cohort of Children and Adolescents With Classic Adrenal Hyperplasia (CAH) Due to 21-Hydroxylase Deficiency
• Establishment of revised diagnostic cut-offs for adrenal laboratory investigation using the new Roche Diagnostics Elecsys® Cortisol II assay
• 11-Oxygenated Androgens Are Biomarkers of Adrenal Volume and Testicular Adrenal Rest Tumors in 21-Hydroxylase Deficiency
• Revisiting the prevalence of nonclassic congenital adrenal hyperplasia in US Ashkenazi Jews and Caucasians

Cited by

• Non-Classic Disorder of Adrenal Steroidogenesis and Clinical Dilemmas in 21-Hydroxylase Deficiency Combined with Backdoor Androgen Pathway. Mini-Review and Case Report
• Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
• Reproductive and Perinatal Outcomes in Women with Congenital Adrenal Hyperplasia: A Population-based Cohort Study
• Congenital adrenal hyperplasia due to 21-hydroxylase deficiency [wikipedia]

Related

• Results of Screening 1.9 Million Texas Newborns for 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
• Congenital Adrenal Hyperplasia: Time to Replace 17OHP with 21-Deoxycortisol
• Worldwide Experience in Newborn Screening for Classical Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency
• Wisconsin’s Screening Algorithm for the Identification of Newborns with Congenital Adrenal Hyperplasia
• A Liquid Chromatography/Tandem Mass Spectometry Profile of 16 Serum Steroids, Including 21-Deoxycortisol and 21-Deoxycorticosterone, for Management of Congenital Adrenal Hyperplasia