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一例罕见的自身免疫性多腺体综合征 3 型合并生长激素缺乏症和甲状腺功能亢进症的假性特纳综合征患者。

A rare case of coexistence of autoimmune polyglandular syndrome type 3 with growth hormone deficiency and hyperthyroidism in a patient with pseudo-Turner's syndrome.

机构信息

Department of Endocrinology, the First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, Zhejiang, China.

Department of Endocrinology, the Affiliated Wenling Hospital, Wenzhou Medical University; Wenling, Zhejiang, China.

出版信息

J Int Med Res. 2020 Oct;48(10):300060520961684. doi: 10.1177/0300060520961684.

Abstract

Autoimmune polyglandular syndrome (APS) is a rare disease that is characterized by autoimmune reactions to multiple endocrine and non-endocrine organs, which can be divided into four main types. The principal manifestations of APS-3 are autoimmune thyroid disease and other autoimmune diseases, such as type 1 diabetes, atrophic gastritis, pernicious anemia, vitiligo, alopecia, and myasthenia gravis, but not Addison's disease or hypoparathyroidism. Here we report a case demonstrating the rare coexistence of growth hormone deficiency and hyperthyroidism with sexual dysgenesis, secondary amenorrhea, cardiomegaly, splenomegaly, hypoproteinemia, pleural effusion, seroperitoneum, pericardial effusion, anasarca, osteoporosis, vitamin D deficiency, iron-deficiency anemia, poor blood coagulation, leucocytopenia, peripheral neuropathy, hyperuricemia, ichthyosis, tinea cruris, and onychomycosis.

摘要

自身免疫性多腺体综合征(APS)是一种罕见的疾病,其特征是对多个内分泌和非内分泌器官的自身免疫反应,可以分为四个主要类型。APS-3 的主要表现为自身免疫性甲状腺疾病和其他自身免疫性疾病,如 1 型糖尿病、萎缩性胃炎、恶性贫血、白癜风、脱发和重症肌无力,但没有 Addison 病或甲状旁腺功能减退症。我们在这里报告一例罕见的病例,该病例同时存在生长激素缺乏症、甲状腺功能亢进症以及性发育不良、继发性闭经、心脏扩大、脾肿大、低蛋白血症、胸腔积液、腹腔积液、心包积液、全身性水肿、骨质疏松症、维生素 D 缺乏、缺铁性贫血、凝血功能差、白细胞减少、周围神经病、高尿酸血症、鱼鳞病、股癣和甲真菌病。

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