Long-term cardiometabolic morbidity in young adults with classic 21-hydroxylase deficiency congenital adrenal hyperplasia

Righi, B; Ali, SR; Bryce, J; Tomlinson, JW; Bonfig, W; Baronio, F; Costa, EC; Guaragna-Filho, G; T’Sjoen, G; Cools, M; Markosyan, R; Bachega, TASS; Miranda, MC; Iotova, V; Falhammar, H; Ceccato, F; Stancampiano, MR; Russo, G; Daniel, E; Auchus, RJ; Ross, RJ; Ahmed, SF

Journal article

Long-term cardiometabolic morbidity in young adults with classic 21-hydroxylase deficiency congenital adrenal hyperplasia

Abstract:: Background: Clinical outcome studies of 21-hydroxylase deficiency congenital adrenal hyperplasia (21OHD CAH) may be subject to selection bias due to incomplete case ascertainment. This study aimed to develop a methodology for identifying existing CAH cases and explore its utility to study clinical outcomes. Methods: 17-hydroxyprogesterone assays (17OHP) processed in NHS Greater Glasgow and Clyde between 2014 and 2022 were analysed based on 17OHP result (≥ 6 or < 6nmol/L), location, test frequency and clinical details. Identified cases were cross-referenced against local clinical data logs. For confirmed cases, current age, sex, age at diagnosis, mortality status, most recent blood pressure (BP) and anthropometry were collected. Results: Assay results from 57,011 cases were extracted and, of these, 116 (F:M, 81:35) had confirmed CAH but 66 (57%) were not reported by any local clinical data logs. The median age at the time of the study was 33 years (range, 2, 75) and 95 (82%) were over 16 years (F:M, 69:26). In these adults, 52 (55%) were diagnosed in childhood (i.e. ≤ 16 years) and only 1 male was diagnosed in adulthood. The median body mass index (BMI) standard deviation score of children was 0.70 (−2.43, 3.15). Median BMI of adults was 28 (15, 56) and median adult and paediatric systolic BP was 120 mmHg (95, 153) and 106 mmHg (83, 130), respectively. Conclusion: The 17OHP-based algorithm that was used in this study represents a useful method for identifying existing cases of CAH and can allow improved understanding of routinely collected markers of clinical outcome

Publication status:: Published

Peer review status:: Peer reviewed

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APA Style

Righi, B., Ali, S. R., Bryce, J., Tomlinson, J. W., Bonfig, W., Baronio, F., Costa, E. C., Guaragna-Filho, G., T’Sjoen, G., Cools, M., Markosyan, R., Bachega, T. A. S. S., Miranda, M. C., Iotova, V., Falhammar, H., Ceccato, F., Stancampiano, M. R., Russo, G., Daniel, E., … Ahmed, S. F. (2023). Long-term cardiometabolic morbidity in young adults with classic 21-hydroxylase deficiency congenital adrenal hyperplasia. Endocrine, 80(3), 630–638.

MLA Style

Righi, B, et al. “Long-Term Cardiometabolic Morbidity in Young Adults with Classic 21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia.” Endocrine, vol. 80, no. 3, 2023, pp. 630–38.

Chicago Style

Righi, B, SR Ali, J Bryce, et al. 2023. “Long-Term Cardiometabolic Morbidity in Young Adults with Classic 21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia.” Endocrine 80 (3): 630–38.
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