TY - JOUR T1 - Guideline review: congenital adrenal hyperplasia clinical practice guideline 2018 JF - Archives of disease in childhood - Education & practice edition JO - Arch Dis Child Educ Pract Ed SP - 354 LP - 357 DO - 10.1136/archdischild-2019-317573 VL - 106 IS - 6 AU - Philippa Prentice Y1 - 2021/12/01 UR - http://ep.bmj.com/content/106/6/354.abstract N2 - Congenital adrenal hyperplasia (CAH) has an incidence of 1:14 000 to 1:18 000 worldwide. It is caused by autosomal recessive gene mutations, encoding enzymes in the adrenal steroidogenesis pathway. The majority, CYP21A1 mutations, result in 21-hydroxylase deficiency, with: inability to synthesise cortisol and aldosterone; diversion of increased steroid precursors, including 17-hydroxyprogesterone (17-OHP), into androgen production (figure 1). Neonates typically present with virilisation at birth, or in shock, ‘salt-losing crisis’, around days 10–14 of life. Some children present later with simple virilising CAH, often with milder compound heterozygous mutations.Figure 1 Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: effect on steroidogenesis.This guideline focusses solely on CAH caused by 21-hydroxylase deficiency. It is written by the US Endocrine Society (2018) and cosponsored by several other organisations, including the European Society for Paediatric Endocrinology (ESPE). The guideline updates previous 2010 recommendations (box 1), particularly focussing on: if and when genital surgery should happen; prenatal treatment; ‘sick day’ rules; mental health and other comorbidities. The article spans from pregnancy to adulthood, but only paediatric guidance is summarised here.Box 1 Links to guideline and other resources Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an endocrine society clinical practice guideline. 20181 : https://academic.oup.com/jcem/article/103/11/4043/5107759 20102 : https://academic.oup.com/jcem/article/95/9/4133/2835216 Other useful resources Patient/family support group: www.livingwithcah.com Parent information sheet (UK): https:www.bsped.org.uk/media/1559/congenital-adrenal-hyperplasia-nov-18.pdf Video (UK): how to give emergency intramuscular hydrocortisone https://m.youtube.com/watch?v=z4av7h5RH_o DiagnosisNewborn screening, measuring blood spot 17-OHPStandard practice in the USA and many other countries (although not in the UK), aiming to reduce morbidity and mortality, particularly for male babies, who unlike those with XX karyotype will not show virilisation at birth.First-line testing using immunoassay has high sensitivity but many false positives. Second-line testing should use liquid chromatography-tandem mass spectrometry, with greater specificity and sensitivity.Reference ranges for 17-OHP should … ER -