Endocrine Abstracts

Background: 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 (1, 1,021). Of these, 4,885 (47%) were registered with access to the DSD module (I-DSD) only, 3,750 (36%) as I-CAH, 1,641(16%) as Turner syndrome, and 137(1.3%) as hypogonadotropic hypogonadism. Among patients within I-DSD, 4,881 (100%) had reached 1 year of age, of whom 928 (19%) had at least one follow-up assessment recorded during the first year of life with the median of 0 visits (0, 5). Completeness differed at later milestones: 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. Of the 4,885 cases within I-DSD, 769(16%) had a karyotype consistent with Klinefelter syndrome. In I-CAH, 1,785 patients were aged <18 years, of whom 1,227(69%) had at least one assessment recorded with the median 6 visits per patient (0, 59). Among 1,965 adults with CAH, 593 (30%) had at least one assessment with the median of <1 visits (0, 35). Across centres, the median percentage of patients with at least one CAH assessment was 82% and 19% in those aged <18 years and adults, respectively. The median number of assessments per patient per centre was 3.5 (0, 30) and 0 (0, 15), respectively. Of the total 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 international 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.