Guideline review: congenital adrenal hyperplasia clinical practice guideline 2018

Introduction 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. Information about the guideline 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...
Source: Archives of Disease in Childhood - Education and Practice - Category: Pediatrics Authors: Tags: Guideline review Source Type: research