ESPE Yearbook of Paediatric Endocrinology

Brief Summary: The authors describe the development and utility of an international collaborative database in congenital adrenal hyperplasia (CAH). I-CAH serves as a tool for benchmarking clinical care and supporting research and development of novel therapies.

Rare disease registries can form the basis of best practice guidelines and allow for monitoring of new drugs and therapeutic interventions. The I-CAH Registry was developed as an international platform to collect standardized data on patients with Congenital Adrenal Hyperplasia (CAH) and was launched in 2014. It is designed to collect comprehensive data across the lifespan of individuals with CAH, allowing for robust research and clinical benchmarking. The registry also supports numerous research projects worldwide.

Up to February 2023, I-CAH included 2690 cases of CAH from 92 centers in 32 countries. Of these, 2410 (90%) were due to 21-hydroxylase deficiency, 90 (3.5%) were due to 11-β hydroxylase deficiency. Other cases included 40 cases of 3β-hydroxylase deficiency (1.5%) and 13 cases of cytochrome P450 oxidoreductase deficiency (0.5%). It includes core demographic data, birth data including sex assignment and details of the condition including genetics. Other data fields include a variety of characteristics at first assessment including prenatal diagnosis, prenatal dexamethasone treatment, presence of adrenal or salt-losing crisis at presentation, current medications and anthropometric data. Longitudinal assessments for bone health, pubertal timing and adverse events are also included. I-CAH has facilitated over 20 research publications and supports ongoing studies that explore various aspects of CAH management and outcomes. It also contributes to care quality improvement (CQI) projects by providing benchmarks and feedback to participating centers.

The I-CAH Registry is an important international resource that enhances the understanding and management of CAH through collaborative research and data-driven quality improvement initiatives. Its robust governance structure and commitment to stakeholder engagement ensure that it remains a valuable tool for advancing CAH care globally.

References: 1. Ali S, Lucas?Herald A, Bryce J, Ahmed S. The role of international databases in understanding the aetiology and consequences of differences/disorders of sex development. Int J Mol Sci. 2019;20(18): 4405.2. Kourime M, Bryce J, Jiang J, Nixon R, Rodie M, Ahmed SF. An assessment of the quality of the I-DSD and the I-CAH registries— international registries for rare conditions affecting sex development. Orphanet J Rare Dis. 2017;12(1):56.