Chiodini Iacopo, Ramos-Rivera Arelys, Marcus Alan O, Yau Hanford
Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy.
Unit for Bone Metabolism Diseases and Diabetes and Laboratory of Endocrine and Metabolic Research, Istituto di Ricovero e Cura a Carattere Scientifico Istituto Auxologico Italiano, Milan, Italy.
J Endocr Soc. 2019 Apr 11;3(5):1097-1109. doi: 10.1210/js.2018-00382. eCollection 2019 May 1.
Although prolonged hypercortisolism is associated with increased mortality and substantial morbidity, the clinical signs and symptoms are wide ranging and often nonspecific, contributing to challenges in diagnosis, as well as treatment delays. Greater awareness is needed among clinicians to help identify which patients should undergo biochemical screening for excess cortisol. Several biochemical tests are available, each with important caveats that should be considered in the context of the individual patient. Cortisol secretion varies widely, further complicating the biochemical diagnosis of hypercortisolism, which relies on the use of definitive cutoff values. Patients with hypercortisolism resulting from adrenal adenomas, including those discovered incidentally, often do not present with overt Cushingoid features (plethora, striae, muscle weakness, moon facies, ). However, the consequences of prolonged exposure to even slight elevations in cortisol levels are profound, including increased risk of diabetes, hypertension, fractures, cardiovascular events, and mortality. Because most cases of hypercortisolism resulting from an adrenal adenoma can be managed, it is imperative to identify patients at risk and initiate testing early for the best outcomes. The aim of this report is to increase awareness of the indications for screening for hypercortisolism and to review the biochemical screening tests and diagnosis for hypercortisolism associated with adrenal adenomas.
尽管长期皮质醇增多症与死亡率增加和严重发病率相关，但临床体征和症状范围广泛且往往不具特异性，这给诊断带来挑战，也导致治疗延迟。临床医生需要提高认识，以帮助确定哪些患者应接受皮质醇过量的生化筛查。有几种生化检测方法可用，每种方法都有重要的注意事项，应根据个体患者情况加以考虑。皮质醇分泌差异很大，这使得依赖于明确临界值的皮质醇增多症的生化诊断更加复杂。由肾上腺腺瘤引起的皮质醇增多症患者，包括偶然发现的患者，通常没有明显的库欣样特征（多血质、紫纹、肌肉无力、满月脸等）。然而，即使皮质醇水平轻微升高，长期暴露的后果也很严重，包括糖尿病、高血压、骨折、心血管事件和死亡风险增加。由于大多数由肾上腺腺瘤引起的皮质醇增多症病例是可以治疗的，因此识别有风险的患者并尽早开始检测以获得最佳结果至关重要。本报告的目的是提高对皮质醇增多症筛查指征的认识，并回顾与肾上腺腺瘤相关的皮质醇增多症的生化筛查试验和诊断。
