Endocrine Abstracts

Background: Impaired final adult height and excess body weight associated with 21-hydroxylase deficiency congenital adrenal hyperplasia (21-OHD CAH) have been linked to unfavourable quality of life outcomes. This study aims to establish international anthropometry benchmarks for 21-OHD children using real-world data existing in the I-CAH registry.

Methods: All 21-OHD cases in the I-CAH registry with height and weight data collected from birth to 18.5yrs were included. One clinic visit per year of life was selected for each case by proximity to birth date and country specific reference data were used when available to calculate standard deviation scores (SDS). For this initial analysis, multifactorial analysis was undertaken describing medians and ranges by year of life, sex, growth stage.

Results: 19,322 longitudinal visits between 1969 – 2025 from 1,405 21-OHD cases across 26 countries in 5 continents were extracted and of these 17,480 visits from 1,324 cases were included with a median number of visits per case of 10 (1, 66). From this, 6,175 single visits per year of life from 1021 cases were selected for preliminary analysis with a median of 8 visits per case (1, 18) at a median age of 7yrs (1, 18). Median height SDS was -0.9 (-4.0, 3.6) in the 1-3yrs age band (n, 714), 0.4 (-3.6, 4.0) in the 7-9yrs age band (n, 524) and -0.9 (-3.9, 2.0) in the 16-18yrs age band (n, 235). Median BMI SDS for 4-6yrs (n, 605), 7-9yrs (n, 525) and 16-18yrs (n, 235) was 0.6 (-3.5, 3.9), 0.8 (-3.1, 3.9) and 0.6 (-3.1, 3.8) respectively.

Conclusions: I-CAH is a rich source of real-world anthropometry data and initial analysis shows that patterns of growth in this large international cohort are similar to other reports of smaller number of cases. Further analysis will explore temporal and geographical variation and establish anthropometric benchmarks that can lead to the generation of centre-specific reports.