Service evaluation suggests variation in clinical care provision in adults with congenital adrenal hyperplasia in the UK and Ireland
Abstract
Background: Congenital adrenal hyperplasia (CAH) encompasses a rare group of autosomal recessive disorders, characterised by enzymatic defects in steroidogenesis. Heterogeneity in management practices has been observed internationally. The International Congenital Adrenal Hyperplasia registry (I-CAH, https://sdmregistries.org/) was established to enable insights into CAH management and outcomes, yet its global adoption by endocrine centres remains unclear.
Design: We sought (1) to assess current practices amongst clinicians managing patients with CAH in the United Kingdom and Ireland, with a focus on choice of glucocorticoid, monitoring practices and screening for associated co-morbidities, and (2) to assess use of the I-CAH registry.
Measurements: We designed and distributed an anonymised online survey disseminated to members of the Society for Endocrinology and Irish Endocrine Society to capture management practices in the care of patients with CAH.
Results: Marked variability was found in CAH management, with differences between general endocrinology and subspecialist settings, particularly in glucocorticoid use, biochemical monitoring and comorbidity screening, with significant disparities in reproductive health monitoring, notably in testicular adrenal rest tumours (TARTs) screening (p = .002), sperm banking (p = .0004) and partner testing for CAH (p < .0001). Adoption of the I-CAH registry was universally low.
Conclusions: Differences in current management of CAH continue to exist. It appears crucial to objectify if different approaches result in different long-term outcomes. New studies such as CaHASE2, incorporating standardised minimum datasets including replacement therapies and monitoring strategies as well as longitudinal data collection, are now needed to define best-practice and standardise care.
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Date
2024-03-17
Type
Article
Subject
Endocrinology, Health services. Management
Collections
Citation
Doyle LM, Ahmed SF, Davis J, Elford S, Elhassan YS, James L, Lawrence N, Llahana S, Okoro G, Rees DA, Tomlinson JW, O'Reilly MW, Krone NP. Service evaluation suggests variation in clinical care provision in adults with congenital adrenal hyperplasia in the UK and Ireland. Clin Endocrinol (Oxf). 2024 Oct;101(4):386-396. doi: 10.1111/cen.15043. Epub 2024 Mar 17.
Journal / Source Title
Clinical Endocrinology
DOI
10.1111/cen.15043
PMID
38493480
Publisher
Wiley
Publisher’s URL
http://onlinelibrary.wiley.com/journal/10.1111/(ISSN)1365-2265