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罕见的临床问题 - 与慢性酒精滥用相关的孤立性 ACTH 缺乏症。

Rare clinical problem - isolated ACTH deficiency associated with chronic alcohol abuse.

机构信息

Department of Endocrinology and Metabolic Diseases, Medical University of Lodz, Lodz, Poland.

Department of Endocrinology and Metabolic Diseases, Polish Mother's Memorial Hospital - Research Institute, Lodz, Poland.

出版信息

Endokrynol Pol. 2022;73(4):778-783. doi: 10.5603/EP.a2022.0056. Epub 2022 Aug 16.

Abstract

Isolated adrenocorticotropic hormone (ACTH) deficiency (IAD) is a rare pituitary disorder characterized by decreased secretion of ACTH, leading to cortisol deficiency, with normal secretion of other pituitary hormones. Diagnostics remains a challenge due to variable and nonspecific clinical presentation: weakness, weight loss, and low blood pressure. Hyponatremia and anemia are typical abnormalities in basic laboratory tests. Diagnostic procedures for IAD are based on results of low morning cortisol with low/normal ACTH concentrations, with flat response of these hormones in dynamic tests [with insulin/glucagon/corticotropin-releasing hormone (CRH)]. There is also no cortisol response to Synacthen during the standard (not extended) test duration. Several aetiologies lead to the development of IAD. The congenital form is typical of childhood onset. In adults, autoimmune aetiology prevails, including lymphocytic hypophysitis, and rarer - pituitary injury or other lesions in the gland. IAD has recently been demonstrated as a complication in patients receiving therapy with immune checkpoint inhibitors. Also, in the case of IAD, paraneoplastic autoimmune hypophysitis should be considered. Next, alcohol abuse has been reported to be a reason of IAD in single cases. Treatment with oral hydrocortisone usually causes significant improvement. As an example, we present 2 patients diagnosed with IAD. Both were older males, with history of alcohol abuse, long lasting hyponatremia, and weakness. Their clinical state normalized after receiving replacement therapy with hydrocortisone.

摘要

孤立性促肾上腺皮质激素(ACTH)缺乏症(IAD)是一种罕见的垂体疾病,其特征是 ACTH 分泌减少,导致皮质醇缺乏,而其他垂体激素的分泌正常。由于临床表现具有多变性和非特异性,因此诊断仍然具有挑战性:乏力、体重减轻和低血压。低钠血症和贫血是基本实验室检查中的典型异常。IAD 的诊断程序基于清晨皮质醇低伴 ACTH 浓度低/正常,以及这些激素在动态试验[胰岛素/胰高血糖素/促肾上腺皮质激素释放激素(CRH)]中的平坦反应。在标准(非延长)测试期间,Synacthen 也不会引起皮质醇反应。几种病因导致 IAD 的发生。先天性形式是儿童发病的典型表现。在成年人中,自身免疫病因占主导地位,包括淋巴细胞性垂体炎,以及更罕见的 - 垂体损伤或腺体的其他病变。最近在接受免疫检查点抑制剂治疗的患者中发现 IAD 是一种并发症。此外,在 IAD 的情况下,应考虑副肿瘤自身免疫性垂体炎。接下来,有报道称酒精滥用是 IAD 的单一原因。口服氢化可的松治疗通常会显著改善。例如,我们介绍了 2 例诊断为 IAD 的患者。他们都是年龄较大的男性,有酒精滥用史、长期低钠血症和乏力。接受氢化可的松替代治疗后,他们的临床状况恢复正常。

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