Analysis of real-world data on the care provision of children with congenital adrenal hyperplasia in the United Kingdom and republic of Ireland

Bacila Irina A; Rebecca Welch; Lawrence Neil Richard; Chamila Balagamage; Jillian Bryce; Ali Salma R.; Malika Alimussina; Minglu Chen; Nadia Amin; Arya Ved Bhushan; Davies Justin H; Gabriella Gazdagh; Evelien Gevers; Arundathi Jayasena; Marta Korbonits; Krone Ruth E; Harriet Miles; Anuja Natarajan; Susan O; Michael O; Pooja Sachdev; Savitha Shenoy; Mars Skae; Ajay Thankamony; Ahmed S Faisal; Krone Nils P

doi:10.1530/endoabs.111.P6

P6

Prev Next

Section Contents Cite

Endocrine Abstracts (2025) 111 P6 | DOI: 10.1530/endoabs.111.P6

BSPED2025 Poster Presentations Adrenal 1 (10 abstracts)

Analysis of real-world data on the care provision of children with congenital adrenal hyperplasia in the United Kingdom and republic of Ireland

Irina A Bacila ^1,2 , Rebecca Welch ¹ , Neil Richard Lawrence ¹ , Chamila Balagamage ³ , Jillian Bryce ⁴ , Salma R. Ali ^5,4 , Malika Alimussina ⁴ , Minglu Chen ⁴ , Nadia Amin ⁶ , Ved Bhushan Arya ⁷ , Justin H Davies ^8,9 , Gabriella Gazdagh ¹⁰ , Evelien Gevers ¹¹ , Arundathi Jayasena ⁶ , Marta Korbonits ¹¹ , Ruth E Krone ³ , Harriet Miles ¹² , Anuja Natarajan ¹³ , Susan O’Connell ¹⁴ , Michael O’Reilly ¹⁵ , Pooja Sachdev ^16,17 , Savitha Shenoy ¹⁸ , Mars Skae ¹⁹ , Ajay Thankamony ²⁰ , S Faisal Ahmed ^5,4 & Nils P Krone ^1,2

Author affiliations

¹The University of Sheffield, Sheffield, United Kingdom; ²Sheffield Children’s Hospital, Sheffield, United Kingdom; ³Birmingham Women’s & Children’s Hospital, Birmingham, United Kingdom; ⁴Royal Hospital for Children & Queen Elizabeth University Hospital, Glasgow, United Kingdom; ⁵University of Glasgow, Glasgow, United Kingdom; ⁶Leeds General Infirmary, Leeds, United Kingdom; ⁷Kings’ College Hospitals NHS Trust, London, United Kingdom; ⁸University Hospital Southampton, Southamptom, United Kingdom; ⁹University of Southampton, Southampton, United Kingdom; ¹⁰Southampton General Hospital, Southampton, United Kingdom; ¹¹William Harvey Research Institute, Queen Mary University London, London, United Kingdom; ¹²Royal Hospital for Children and Young People, Edinburgh, United Kingdom; ¹³Doncaster and Bassetlaw Hospitals NHS Trust, Doncaster, United Kingdom; ¹⁴Children’s Health Ireland (CHI) at Crumlin, Dublin, Ireland; ¹⁵Beaumont Hospital Dublin, Dublin, Ireland; ¹⁶University of Nottingham, Nottingham, United Kingdom; ¹⁷Nottingham Children’s Hospital, Nottingham, United Kingdom; ¹⁸Leicester Royal Infirmary, Leicester, United Kingdom; ¹⁹Royal Manchester Children’s Hospital, Manchester, United Kingdom; ²⁰University of Cambridge, Cambridge, United Kingdom

Background: To explore the current practice of CAH management in children, we launched a 5-year-project in 03/2022, collecting annually longitudinal data from the I-CAH Registry on the SDMregistries platform on patients under 18 with 21-hydroxylase deficiency (21OHD) from the UK and Republic of Ireland.

Methods: By April 2025, 1291 visits from 182 patients under 18 with 21OHD (100 females), from 15 centres had been recorded in the I-CAH registry since 01/01/2016. Using regression strategies in the RStudio, we analysed information related to medication, biomarkers and height standard deviation scores (SDS) for age and sex (WHO reference). We expressed glucocorticoid (GC) doses as hydrocortisone (HC) equivalent per body surface area.

Results: Most patients (95%) were treated with hydrocortisone given three or four times daily, the remaining 8 patients using prednisolone. The mean daily GC dose was 12.5 (±3.3 SD) HC-equivalent mg/m²/day, mean dose per patient ranging from 4.7 (±0.06) to 22.3 (±0.4) mg/m²/day. There were broad variations in mean GC doses between centres, fluctuating between 9.8 and 16.8 mg/m²/day. The GC dose increased with age by 0.2 mg/m²/day per year, depending upon centre, and varied with sex, doses used in boys being lower by 1.1 mg/m²/day. There was large variation in the timing of the GC doses, with six centres using late doses between 22:00-24:00. Total daily doses of fludrocortisone ranged between 25 and 350 mg/day, with significant variability between centres (R²=0.02, P < 0.01). 17-hydroxyprogesterone was reported high in 42% patient visits and low in 14%; androstenedione was high in 25% patient visits and low in 20%. Height SDS fluctuated with age, starting from -0.5 in infancy increasing to 1.2 at 10 years and then decreasing to -1.0 at 17.5 years.

Conclusions: Through active engagement with the collaborating centres, we have significantly increased the number of patients consented and recorded in the I-CAH registry. There is evidence of significant variation between centres in the treatment strategies used for CAH. Further analysis linking different approaches to health outcomes will garner further insights towards improving treatment and help develop strategies for benchmarking care for CAH within the UK and the Republic of Ireland.