Endocrine Abstracts

Introduction: The management of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase (21-OH) deficiency is challenging and clinical practice is known to vary. Clinical guidelines were published in the Consensus Statement in 2002 encompassing evidence for best practice.

Aims: To compare the management of paediatric patients with severe 21-OH deficiency in South East and West of Scotland (SE and WoS) with consensus guidelines. To determine the nature and timing of initial clinical presentation.

Methods: A retrospective audit of case notes. Inclusion criteria were patients with 21-OH deficiency, presenting in the first year of life from 1993 to 2012 in SE and WoS. Cases were identified through contact with local clinicians. Data extracted included details of initial presentation, surgical and current medical management.

Results: 28 patients were identified (15 girls), with a median age of 11.2 years (range 1.1–19.9 years). All girls were identified at birth. Boys presented at a median age of 14 days (range 0–51 days). Glucocorticoid doses ranged from 4–25 mg/m² per day (median 13.4 mg/m² per day), with 15 of 28 (54%) patients receiving the recommended dose of 10–15 mg/m² per day. Mineralocorticoid doses ranged from 0.1–0.3 mg/day (median 0.15 mg/day), with 26 of 28 (93%) patients receiving 0.05–0.2 mg/day. In conflict with guidelines none of the 14 girls who have had surgery had initial procedures performed between 2 and 6 months of age, 13 girls had surgery aged between 12 months of age and adolescence.

Conclusion: The medical and surgical management of 21-OH deficiency frequently diverges from clinical guidelines. This may arise from variation in the needs of individual patients but may also reflect variation in the approach of different clinicians. Specific national guidelines would aid clinical practice ensuring more uniform management and optimising patient care.