A Novel Clinical Entity of Autoimmune Endocrinopathy: Anti-PIT-1 Antibody Syndrome.

2区 医学 Q2 Medicine
Frontiers of Hormone Research Pub Date : 2017-01-01 Epub Date: 2017-02-28 DOI:10.1159/000452907
Genzo Iguchi, Hironori Bando, Yutaka Takahashi
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引用次数: 2

Abstract

Pituitary-specific transcription factor 1 (PIT-1; POU domain, class 1, transcription factor 1 (POU1F1)) is an essential transcription factor for the differentiation of somatotrophs, lactotrophs, and thyrotrophs, and for the expression of growth hormone (GH), prolactin (PRL), and thyroid-stimulating hormone (TSH). Mutations in PIT-1 cause congenital defects in GH and PRL secretion and severe TSH insufficiency. Anti-PIT-1 antibody syndrome, firstly reported in 2011, is characterized by acquired GH, PRL, and TSH deficiencies without PIT-1 mutation and is associated with the presence of the circulating antibody against PIT-1 protein as a marker. Various autoantibodies are detected with multiple endocrine organopathies in this syndrome; therefore, it meets the criteria of autoimmune polyglandular syndrome. Mechanistically, cytotoxic T lymphocytes specifically reacting with PIT-1 protein play an important role in the development of this syndrome.

自身免疫性内分泌病的一种新的临床实体:抗pit -1抗体综合征
垂体特异性转录因子1 (PIT-1);POU结构域,第一类,转录因子1 (POU1F1))是促生长因子、乳养因子、促甲状腺因子分化的重要转录因子,也是生长激素(GH)、催乳素(PRL)、促甲状腺激素(TSH)表达的重要转录因子。PIT-1突变导致先天性GH和PRL分泌缺陷以及严重的TSH不足。Anti-PIT-1抗体综合征于2011年首次报道,其特征是获得性GH、PRL和TSH缺乏,无PIT-1突变,与循环中存在针对PIT-1蛋白的抗体相关。多种自身抗体在多发性内分泌器官病变中被检测到;因此符合自身免疫性多腺综合征的标准。从机制上讲,细胞毒性T淋巴细胞特异性与PIT-1蛋白反应在该综合征的发展中起重要作用。
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来源期刊
Frontiers of Hormone Research
Frontiers of Hormone Research 医学-内分泌学与代谢
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期刊介绍: A series of integrated overviews on cutting-edge topics New sophisticated technologies and methodological approaches in diagnostics and therapeutics have led to significant improvements in identifying and characterizing an increasing number of medical conditions, which is particularly true for all aspects of endocrine and metabolic dysfunctions. Novel insights in endocrine physiology and pathophysiology allow for new perspectives in clinical management and thus lead to the development of molecular, personalized treatments. In view of this, the active interplay between basic scientists and clinicians has become fundamental, both to provide patients with the most appropriate care and to advance future research.
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