Presentation (CTI)

OBJECTIVES: To implement and evaluate a multilevel framework of quality metrics assessing investigator activity, centre engagement and case-level data completeness within the International Registries for Rare Conditions Affecting Sex Development and Maturation (https://sdmregistries.org) platform.
METHODS: A multidimensional quality monitoring framework was applied to routine registry activity data, defining metrics across investigator, centre and case levels. Ages at assessment were analysed using recommended developmental follow-up milestones.
RESULTS: A total of 175 centres from 47 countries contributed data on 10,413 cases, with a median of 26 cases per centre (range, 1, 1,021). Of these, 4,885 (47%) were registered in I-DSD module, 3,750 (36%) in I-CAH, 1,641 (16%) in Turner syndrome, and 137 (1.3%) in hypogonadotropic hypogonadism registries.Within I-DSD, all 4,881 patients had reached 1 year of age; 928 (19%) had at least one follow-up assessment during the first year of life, with a median of 0 visits (0, 5). Completeness at later milestones was 3.2% at age 4 years, 2.1% at age 8 years, 3.8% at age 10 years and 7.1% at age 16 years. Across centres, the median percentage of patients with a recorded DSD assessment was <1% at all age groups. Among I-DSD cases, 769 (16%) had a karyotype consistent with Klinefelter syndrome.In I-CAH, 1,227/1,785 (69%) patients aged <18 years and 593/1,965 (30%) adults had at least one assessment recorded, with a median of 6 (0, 59) and <1 (0, 35) visits, respectively. Across centres, the median percentage of patients with at least one CAH assessment was 82% and 19%, respectively. Of all 10,490 cases, 6,683 (64%) were involved in 33 studies launched within the last five years.
CONCLUSIONS: Multilevel quality metrics enable systematic monitoring of registry performance, identify reporting gaps, support centre engagement, and strengthen real-world evidence generation. Follow-up data completeness was higher in younger patients than adults.