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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.

Publication Type:	Article
Additional Information:	This is an open access article under the terms of theCreative Commons AttributionLicense, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.© 2024 The Authors.Clinical Endocrinologypublished by John Wiley & Sons Ltd.
Publisher Keywords:	congenital adrenal hyperplasia, I‐CAH
Subjects:	R Medicine > RC Internal medicine
Departments:	School of Health & Psychological Sciences School of Health & Psychological Sciences > Nursing
SWORD Depositor:	Symplectic Administrator

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