Endocrine Abstracts

Introduction: Congenital adrenal hyperplasia (CAH) is a rare condition affecting steroid-hormone synthesis. We reviewed the investigation and management of children with CAH against current international guidelines and explored variation by region and specialty of responsible clinician.

Methods: Active national surveillance of new diagnoses of CAH in children under age 16 years and resident in Great Britain, undertaken prospectively from 2007 to 2009.

Results: Surveillance identified 144 children newly diagnosed with CAH, of whom 137 (82 diagnosed aged <1 year) were followed-up after 12 months. 108 (79%) children were referred for, or under, specialist care (endocrinologist; paediatrician with endocrinology special interest (PESI)). 85 (62%) children were referred, including to geneticists (n=75), psychological/counselling services (n=27), and surgeons (n=17). Serum 17-hydroxyprogesterone was measured in 132 (96%) children. Of 82 infants diagnosed aged <1 year, 60% had urinary steroid analysis, 49% DNA analysis and 22% a Synacthen stimulation test; of 55 older children, 82% had urinary steroid analysis, 55% DNA analysis, and 62% synacthen stimulation. At follow-up, 82 (100%) infants were taking hydrocortisone, 77 (94%) fludrocortisone, and 38 (46%) sodium supplements. Of 55 older children, 49 (89%) were taking hydrocortisone, one prednisolone and 11 (20%) fludrocortisone. 17 children on steroid-replacement therapy experienced 37 adrenal crises (ten associated with intercurrent illness). Of 30 severely virilised girls (Prader score ≥3), six had genital surgery; eight less virilised girls also underwent surgery. There was little variation by specialty or region, but general paediatricians were significantly less likely to request DNA analysis.

Conclusions: Our surveillance study confirms that international consensus clinical practice guidelines for managing children with CAH (European Society of Paediatric Endocrinology/Lawrence Wilkins Pediatric Endocrine Society, 2002; The Endocrine Society, 2010) are largely followed in the UK. Although current guidance recommends multidisciplinary and specialist care approaches, few families were referred for counselling and one-fifth were not under endocrinologist/PESI care.