Shaikh Salomi, Nagendra Lakshmi, Shaikh Shehla, Pappachan Joseph M
KGN Diabetes and Endocrine Centre, Mumbai 400001, India.
Department of Endocrinology, JSS Medical College, JSS Academy of Higher Education and Research Center, Mysore 570015, India.
Diagnostics (Basel). 2023 May 21;13(10):1812. doi: 10.3390/diagnostics13101812.
The diagnosis of adrenal insufficiency (AI) requires a high index of suspicion, detailed clinical assessment including detailed drug history, and appropriate laboratory evaluation. The clinical characteristics of adrenal insufficiency vary according to the cause, and the presentation may be myriad, e.g. insidious onset to a catastrophic adrenal crisis presenting with circulatory shock and coma. Secondary adrenal insufficiency (SAI) often presents with only glucocorticoid deficiency because aldosterone production, which is controlled by the renin angiotensin system, is usually intact, and rarely presents with an adrenal crisis. Measurements of the basal serum cortisol at 8 am (<140 nmol/L or 5 mcg/dL) coupled with adrenocorticotrophin (ACTH) remain the initial tests of choice. The cosyntropin stimulation (short synacthen) test is used for the confirmation of the diagnosis. Newer highly specific cortisol assays have reduced the cut-off points for cortisol in the diagnosis of AI. The salivary cortisol test is increasingly being used in conditions associated with abnormal cortisol binding globulin (CBG) levels such as pregnancy. Children and infants require lower doses of cosyntropin for testing. 21-hydoxylase antibodies are routinely evaluated to rule out autoimmunity, the absence of which would require secondary causes of adrenal insufficiency to be ruled out. Testing the hypothalamic-pituitary-adrenal (HPA) axis, imaging, and ruling out systemic causes are necessary for the diagnosis of AI. Cancer treatment with immune checkpoint inhibitors (ICI) is an emerging cause of both primary AI and SAI and requires close follow up. Several antibodies are being implicated, but more clarity is required. We update the diagnostic evaluation of AI in this evidence-based review.
肾上腺功能不全(AI)的诊断需要高度的怀疑指数、详细的临床评估(包括详细的用药史)以及适当的实验室检查。肾上腺功能不全的临床特征因病因不同而有所差异,其表现可能多种多样,例如从隐匿性发病到以循环休克和昏迷为表现的灾难性肾上腺危象。继发性肾上腺功能不全(SAI)通常仅表现为糖皮质激素缺乏,因为由肾素血管紧张素系统控制的醛固酮分泌通常正常,且很少出现肾上腺危象。早上8点的基础血清皮质醇测量值(<140 nmol/L或5 mcg/dL)加上促肾上腺皮质激素(ACTH)仍然是首选的初始检查。促肾上腺皮质激素刺激(短程辛纳肽)试验用于确诊。更新的高特异性皮质醇检测方法降低了AI诊断中皮质醇的临界值。唾液皮质醇检测越来越多地用于与皮质醇结合球蛋白(CBG)水平异常相关的情况,如妊娠。儿童和婴儿进行检测时需要较低剂量的促肾上腺皮质激素。常规评估21-羟化酶抗体以排除自身免疫性,若不存在自身免疫性,则需要排除肾上腺功能不全的继发性病因。检测下丘脑-垂体-肾上腺(HPA)轴、进行影像学检查以及排除全身性病因对于AI的诊断是必要的。使用免疫检查点抑制剂(ICI)进行癌症治疗是原发性AI和SAI的一个新兴病因,需要密切随访。有几种抗体与之相关,但还需要更明确的认识。在这篇基于证据的综述中,我们更新了AI的诊断评估。