Department of Neurosurgery, Yeditepe University School of Medicine, Istanbul, Turkey.
Unit of Endocrinology and Metabolic Diseases, University of Campania "Luigi Vanvitelli", Naples, Italy.
J Clin Endocrinol Metab. 2021 Jan 23;106(2):e415-e429. doi: 10.1210/clinem/dgaa771.
The relationship between the endocrine system and autoimmunity has been recognized for a long time and one of the best examples of autoimmune endocrine disease is autoimmune hypophysitis. A better understanding of autoimmune mechanisms and radiological, biochemical, and immunological developments has given rise to the definition of new autoimmune disorders including autoimmunity-related hypothalamic-pituitary disorders. However, whether hypothalamitis may occur as a distinct entity is still a matter of debate.
Here we describe a 35-year-old woman with growing suprasellar mass, partial empty sella, central diabetes insipidus, hypopituitarism, and hyperprolactinemia.
Histopathologic examination of surgically removed suprasellar mass revealed lymphocytic infiltrate suggestive of an autoimmune disease with hypothalamic involvement. The presence of antihypothalamus antibodies to arginine vasopressin (AVP)-secreting cells (AVPcAb) at high titers and the absence of antipituitary antibodies suggested the diagnosis of isolated hypothalamitis. Some similar conditions have sometimes been reported in the literature but the simultaneous double finding of lymphocytic infiltrate and the presence of AVPcAb so far has never been reported.
We think that the hypothalamitis can be considered a new isolated autoimmune disease affecting the hypothalamus while the lymphocytic infundibuloneurohypophysitis can be a consequence of hypothalamitis with subsequent autoimmune involvement of the pituitary. To our knowledge this is the first observation of autoimmune hypothalamic involvement with central diabetes insipidus, partial empty sella, antihypothalamic antibodies and hypopituitarism.
内分泌系统与自身免疫之间的关系早已被认识，而自身免疫性内分泌疾病的最佳范例之一就是自身免疫性垂体炎。对自身免疫机制以及影像学、生化和免疫学进展的更好理解，导致了新的自身免疫性疾病的定义，包括与自身免疫相关的下丘脑-垂体疾病。然而，是否会发生单独的下丘脑炎仍然存在争议。
我们在此描述了一位 35 岁女性患者，其出现了鞍上肿块增大、部分空蝶鞍、中枢性尿崩症、垂体功能减退和高催乳素血症。
手术切除的鞍上肿块的组织病理学检查显示淋巴细胞浸润，提示存在与下丘脑受累相关的自身免疫性疾病。高滴度的抗下丘脑-血管加压素（AVP）分泌细胞（AVPcAb）和无垂体抗体的存在提示孤立性下丘脑炎的诊断。文献中有时会报道一些类似的情况，但目前尚未有报道同时存在淋巴细胞浸润和 AVPcAb 的双重发现。
我们认为，下丘脑炎可被视为一种新的孤立性自身免疫性疾病，影响下丘脑，而淋巴细胞性漏斗神经垂体炎可能是下丘脑炎继发的垂体自身免疫性受累的结果。据我们所知，这是首次观察到自身免疫性下丘脑受累伴中枢性尿崩症、部分空蝶鞍、抗下丘脑抗体和垂体功能减退症。
