BSPED2019 ORAL COMMUNICATIONS Oral Communications 4 (9 abstracts)
1Academic Unit of Child Health, Department of Oncology and Metabolism, University of Sheffield, Sheffield, UK; 2Department of Paediatrics, University of Cambridge, Cambridge, UK; 3Birmingham Womens & Childrens Hospital, Birmingham, UK; 4Paediatric Endocrine Service, Royal Manchester Childrens Hospital, Manchester University NHS Foundation Trust, Manchester, UK; 5Leeds General Infirmary, Leeds, UK; 6Nottingham Childrens Hospital, Nottingham, UK; 7Centre for Endocrinology, William Harvey Research Institute, Queen Mary University London, London and Barts Health NHS Trust The Royal London Hospital, London, UK; 8Great Ormond Street Hospital, London, UK; 9Great North Childrens Hospital, University of Newcastle, Newcastle, UK; 10Developmental Endocrinology Research Group, University of Glasgow, Glasgow, UK; 11Oxford Childrens Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK; 12Bristol Royal Hospital for Children, University Hospitals Bristol Foundation Trust, Bristol, UK; 13University Hospital Southampton, Southampton, UK; 14Alder Hey Childrens Hospital, Liverpool, UK
Introduction: There is limited knowledge on the impact of congenital adrenal hyperplasia (CAH) on the health and well-being of children and young persons (CYP). We aimed to establish the health status of CYP with CAH across the United Kingdom.
Methods: We conducted a national multi-centre prospective study recruiting 107 patients aged 818 with 21-hydroxylase deficiency from 14 centres and 83 matched controls. Demographic, clinical, metabolic data, as well as Strengths and Difficulties (SDQ) and Paediatric Quality of Life (PedsQL) questionnaires were collected and analysed.
Results: Most CAH patients were of White (73.8%) or Southeast Asian (18.6%) ethnicity. Glucocorticoid treatment consisted primarily of hydrocortisone (94.3%), with 76.6% patients also receiving fludrocortisone. 34.3% patients required admission for adrenal crisis after diagnosis. Delta-SDS for target height was 1.2±1.4 for patients younger than 12 years and 0.3±1.6 for 12- to 18-year-olds; patients under 12 years were taller (P=0.02) and patients aged 1218 years shorter (P=0.03) than controls. Patient weight-SDS (0.87; 0.031.35) and body-mass-index-SDS (0.98; −0.04 to 1.94) were significantly higher compared to controls; 27.7% of patients were overweight and 22.8% obese. Five patients had high blood pressure. Post-glucocorticoid dose androstenedione was normal in 32%, suppressed in 7%, and elevated in 50% of patients; 17-hydroxyprogesterone was within target range in 20%, suppressed in 19%, and increased in 43% of patients. Biochemistry indicated normal sodium in all patients, low potassium in 1 patient, normal glucose in all, mildly raised creatinine in 9.8%, high lipids in 9.8% patients. Associated behavioural and mental health problems were reported for 11.3% patients aged 1218 years, similar to the general population. SDQ questionnaires showed high or very high scores for 15.1% patients, most commonly related to hyperactivity and peer problems. The median with interquartile range for PedsQL scores was 81(7288), the areas marked lowest being emotional and school functioning.
Conclusion: Our findings suggest that children with CAH have increased prevalence of growth problems and metabolic co-morbidities, as well as reduced quality of life and mental health well-being. The development of improved standardised strategies for the management and monitoring of CAH in childhood is required in order to improve long-term patient outcomes.