Endocrinology Unit, Department of Medicine (DIMED), University of Padova, Padova, Italy.
Laboratory Medicine, Department of Medicine (DIMED), University of Padova, Padova, Italy.
Clin Chem Lab Med. 2018 May 24;56(6):896-900. doi: 10.1515/cclm-2017-1108.
Autoimmune Addison's disease (AAD) is the most frequent cause of adrenocortical insufficiency. The natural history of AAD usually comprises five consecutive stages with the first stage characterized by the increase of plasma renin consistent with the impairment of pars glomerulosa, which is usually the first affected layer of the adrenal cortex. We describe a 19-year-old female with Hashimoto's thyroiditis (HT) who underwent an autoantibody screening due to having the personal and family history of other autoimmune diseases in the absence of relevant clinical manifestations. She was positive for adrenal cortex autoantibodies (ACA) and steroid 21-hydroxylase autoantibodies (21-OH Ab) at high titers. She had increased basal levels of ACTH with normal basal cortisol not responding to ACTH stimulation, reduced levels of dehydroepiandrosterone-sulfate but normal levels of orthostatic renin and aldosterone. This scenario was consistent with a subclinical AAD presenting with first impairments in pars fasciculata and reticularis and conserved pars glomerulosa function. Only subsequently, progressive deficiency in pars glomerulosa function has become evident. Review of the literature showed that there was only one case, reported to date, with a similar atypical natural history of AAD. The strategies for screening for ACA/21-OH Ab in patients with HT are discussed.
自身免疫性艾迪生病（AAD）是肾上腺皮质功能不全最常见的原因。AAD 的自然病程通常包括五个连续阶段，第一阶段的特征是与球状带损伤一致的血浆肾素增加，而球状带通常是肾上腺皮质最早受影响的层。我们描述了一位 19 岁的女性，她患有桥本甲状腺炎（HT），由于有其他自身免疫性疾病的个人和家族史，在没有相关临床表现的情况下进行了自身抗体筛查。她的肾上腺皮质自身抗体（ACA）和类固醇 21-羟化酶自身抗体（21-OH Ab）呈高滴度阳性。她的 ACTH 基础水平升高，皮质醇基础正常，对 ACTH 刺激无反应，脱氢表雄酮硫酸酯水平降低，但立位肾素和醛固酮水平正常。这种情况与亚临床 AAD 一致，表现为束状带和网状带的最初损伤，而球状带功能保持正常。只有随后才出现了球状带功能的逐渐丧失。文献复习显示，迄今为止只有一例类似的 AAD 不典型自然病史的报道。讨论了在 HT 患者中筛查 ACA/21-OH Ab 的策略。
