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Lookup NU author(s): Professor Timothy Cheetham
This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).
Objective: There is limited knowledge on the onset of comorbidities in congenital adrenal hyperplasia (CAH) during childhood. We aimed to establish the health status of children with CAH in the UK. Design and methods: This cross-sectional multicentre study involved 14 tertiary endocrine UK units, recruiting 101 patients aged 8-18 years with classic 21-hydroxylase deficiency and 83 controls. We analysed demographic, clinical and metabolic data, as well as psychological questionnaires (Strengths and Difficulties (SDQ), Paediatric Quality of Life (PedsQL)). Results: Patient height SDS in relation to mid-parental height decreased with age, indicating the discrepancy between height achieved and genetic potential height. Bone age was advanced in 40.5% patients, with a mean difference from the chronological age of 1.8 (±2.3) years. Patients were more frequently overweight (27%) or obese (22%) compared to controls (10.8% and 10.8%, respectively, P < 0.001). No consistent relationship between glucocorticoid dose and anthropometric measurements or hormonal biomarkers was detected. A small number of patients had raised total cholesterol (3.0%), low HDL (3.0%), raised LDL (7.0%) and triglycerides (5.0%). SDQ scores were within the 'high' and 'very high' categories of concern for 16.3% of patients. 'School functioning' was the lowest PedsQL scoring dimension with a median (interquartile range) of 70 (55-80), followed by 'emotional functioning' with a median of 75 (65-85). Conclusions: Our results show an increased prevalence of problems with growth and weight gain in CAH children and suggest reduced quality of life. This highlights the urgent need to optimise management and monitoring strategies to improve long-term health outcomes.
Author(s): Bacila I, Lawrence NR, Mahdi S, Alvi S, Cheetham TD, Crowne E, Das U, Dattani MT, Davies JH, Gevers E, Krone RE, Kyriakou A, Patel L, Randell T, Ryan FJ, Keevil B, Ahmed SF, Krone NP
Publication type: Article
Publication status: Published
Journal: European Journal of Endocrinology
Year: 2022
Volume: 187
Issue: 4
Pages: 543-553
Print publication date: 01/10/2022
Acceptance date: 24/08/2022
Date deposited: 12/10/2022
ISSN (print): 0804-4643
ISSN (electronic): 1479-683X
Publisher: European Society of Endocrinology
URL: https://doi.org/10.1530/EJE-21-1109
DOI: 10.1530/EJE-21-1109
PubMed id: 36001026
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