Guideline review: congenital adrenal hyperplasia clinical practice guideline 2018

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 ### Diagnosis #### Newborn screening, measuring blood spot 17-OHP