Endocrine Abstracts

Background: Congenital adrenal hyperplasia (CAH) is a recessively inherited deficiency of cortisol production associated with life-threatening adrenal crisis, accelerated growth and excess virilising hormone production, which may result in girls being incorrectly assigned as boys at birth. Newborn screening for CAH has not been introduced in the UK, reflecting concerns about false positive diagnoses, as well as inconsistent information about disease frequency and severity. A national surveillance study of CAH in UK children commenced in August 2007 and preliminary results for the first year will be reported.

Objectives: 1. To determine the incidence of clinically presenting CAH in children under the age of 16 years in the UK, by age, sex and ethnic group. 2. To report clinical features at presentation, including adrenal crises, as well as outcomes at 1 year after diagnosis. 3. To inform a UK policy review of newborn screening for CAH.

Methods: Clinically diagnosed cases of CAH have been ascertained through two UK-wide sources of active surveillance and will be followed 1 year after diagnosis for short-term outcomes. The first source is the clinical surveillance scheme run by the British Paediatric Surveillance Unit (BPSU) and the second source is a laboratory surveillance scheme comprising diagnostic and genetic laboratories performing testing for CAH. Clinicians or laboratories which report a child with CAH to the BPSU are asked to complete an anonymised questionnaire about each case and clinicians are additionally sent a follow-up questionnaire at 1 year following diagnosis.

Findings: After 9 months of surveillance, 50 confirmed cases (30 girls) have been reported. This represents a female excess (ratio girls:boys of 1.5:1). No deaths have been reported. Thirty one cases were diagnosed in the first year of life and 19 between 1 and 14 years old. Over one quarter of cases were Asian/Asian British ethnicity. Of 14 children who presented with life-threatening adrenal crises, 11 presented after the first week of life.

Acknowledgements: We are grateful to the Department of Health for funding this study.