BackgroundCongenital 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.DesignWe 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.MeasurementsWe 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.ResultsMarked 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.ConclusionsDifferences 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.

中文翻译：

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服务评估表明英国和爱尔兰成人先天性肾上腺增生症的临床护理服务存在差异

背景先天性肾上腺增生（CAH）包括一组罕见的常染色体隐性遗传疾病，其特征是类固醇生成的酶促缺陷。国际上观察到管理实践的异质性。国际先天性肾上腺增生症登记处（I-CAH，https://sdmregistries.org/）的建立是为了深入了解 CAH 的管理和结果，但内分泌中心在全球的采用情况仍不清楚。设计我们寻求 (1) 评估英国和爱尔兰临床医生治疗 CAH 患者的当前实践，重点是选择糖皮质激素、监测实践和筛查相关合并症，以及 (2) 评估 I-CAH 注册表的使用。测量我们设计并分发了一项匿名在线调查，分发给内分泌学会和爱尔兰内分泌学会的成员，以捕获管理实践结果 CAH 管理存在显着差异，一般内分泌科和亚专科设置之间存在差异，特别是在糖皮质激素的使用、生化监测和合并症筛查方面，在生殖健康监测方面存在显着差异，特别是在睾丸肾上腺休息肿瘤中（TART）筛选（p= .002), 精子库 (p= .0004) 和 CAH 合作伙伴测试 (p< .0001)。 I-CAH 登记的采用率普遍较低。 结论 当前 CAH 管理中的差异仍然存在。如果不同的方法会导致不同的长期结果，那么客观化似乎至关重要。现在需要诸如 CaHASE2 之类的新研究，结合标准化的最小数据集，包括替代疗法和监测策略以及纵向数据收集，来定义最佳实践和标准化护理。