Menotti Sara, Giampietro Antonella, Raia Salvatore, Veleno Miriam, Angelini Flavia, Tartaglione Tommaso, Gaudino Simona, Doglietto Francesco, De Marinis Laura, Pontecorvi Alfredo, Bianchi Antonio, Chiloiro Sabrina
Pituitary Unit, Department of Endocrinology and Metabolism, Fondazione Policlinico Universitario A. Gemelli, IRCCS, 00168 Rome, Italy.
Department of Translational Medicine and Surgery, Università Cattolica del Sacro Cuore, 00168 Rome, Italy.
J Pers Med. 2023 Jul 30;13(8):1210. doi: 10.3390/jpm13081210.
Hypophysitis, a rare inflammatory disorder of the pituitary gland, has seen an uptick in reported cases in recent years. Our objective is to summarize the most recent research on the etiopathogenesis, molecular mechanisms, and genetics of both primary and secondary hypophysitis. Primary autoimmune hypophysitis (PAH): During the acute phase of the disease, the pituitary gland in enlarged due to the infiltration of T and B lymphocytes. The chronic phase is characterized by progressive and irreversible pituitary atrophy. APA may play a role in the management, diagnosis, and prognosis of PAH. Specific autoantibodies such as anti-GH, anti-PIT-1, and anti-T-PIT have been found in patients with hypophysitis and hypopituitarism. A recent study suggested that a mechanism of escaping clonal deletion and mounting an immune response against self antigens can explain the unusual nature of the immune response observed in PAH patients. A cytokine array shows the presence of gamma-interferon and interleukin-17. Patients carrying mutations in the PIT1 or PROP1 genes may present PAH. Individuals carrying the HLA DQ8 haplotype are four times more likely to develop PAH. Immune checkpoint inhibitors induce hypophysitis (IIHs): IIHs is an increasingly frequent toxicity of in patients on treatment with inhibitors targeting cytotoxic T-lymphocyte antigen 4 (CTLA-4) and programmed cell death-1 (PD-1). ICIs inhibit the CTLA-4 pathway, leading to overactivation of T lymphocytes. The binding of PD-1/PD-L1 suppresses the activity of T cells, promotes the conversion of T-helpers into T-regulatory cells, and activates pro-survival signaling pathways in cancer cells. Cytokines play a crucial role in IIHs. B-cell infiltration has been observed in IIHs, suggesting that antibody-mediated pituitary injury may contribute. Genetic polymorphisms of CTLA-4 and PD-1 genes can increase the risk of IIHs. HLA alleles may also be involved in the onset of IIHs; this HLA association presents a possible alternative mechanistic hypothesis. IIHs may also be linked to a paraneoplastic syndrome triggered by ectopic expression of pituitary specific antigens. SARS-CoV-2-related hypophysitis: Recently, the literature has reported occurrences of hypophysitis associated with the SARS-CoV-2 virus; long COVID-19 may also present as infundibulo-neuro-hypophysitis. The virus enters the central nervous system because of its distinct interaction with angiotensin-converting enzyme receptors via spike proteins binding the capillary endothelium, and it directly damages the pituitary cells. The effect of SARS-CoV-2 can occur indirectly through inflammation and the release of cytokines. The exact mechanism remains ambiguous. The available data on endocrine complications associated with the SARS-CoV-2 vaccine are scant. Nonetheless, isolated cases of hypophysitis have been documented. Treatment of hypophysitis: Glucocorticoids are the cornerstone in managing primary hypophysitis, given their targeted action on inflammation. A better understanding of the etiopathogenesis and molecular mechanism of hypophysitis can lead to more effective and personalized treatment strategies.
垂体炎是一种罕见的垂体腺炎症性疾病,近年来报告的病例有所增加。我们的目的是总结关于原发性和继发性垂体炎的病因发病机制、分子机制和遗传学的最新研究。原发性自身免疫性垂体炎(PAH):在疾病急性期,由于T和B淋巴细胞浸润,垂体增大。慢性期的特征是进行性和不可逆的垂体萎缩。APA可能在PAH的管理、诊断和预后中起作用。在垂体炎和垂体功能减退患者中发现了抗生长激素(anti-GH)、抗垂体特异性转录因子1(anti-PIT-1)和抗垂体特异性转录因子T-PIT(anti-T-PIT)等特异性自身抗体。最近的一项研究表明,逃避克隆清除并针对自身抗原产生免疫反应的机制可以解释PAH患者中观察到的免疫反应的异常性质。细胞因子阵列显示存在γ-干扰素和白细胞介素-17。携带垂体特异性转录因子1(PIT1)或先知因子1(PROP1)基因突变的患者可能患PAH。携带人类白细胞抗原DQ8单倍型的个体患PAH的可能性高四倍。免疫检查点抑制剂诱发的垂体炎(IIHs):IIHs是使用靶向细胞毒性T淋巴细胞相关抗原4(CTLA-4)和程序性细胞死亡蛋白1(PD-1)的抑制剂治疗的患者中越来越常见的毒性反应。ICI抑制CTLA-4途径,导致T淋巴细胞过度活化。PD-1/PD-L1的结合抑制T细胞活性,促进辅助性T细胞转化为调节性T细胞,并激活癌细胞中的促存活信号通路。细胞因子在IIHs中起关键作用。在IIHs中观察到B细胞浸润,提示抗体介导的垂体损伤可能起作用。CTLA-4和PD-1基因的遗传多态性可增加IIHs的风险。HLA等位基因也可能与IIHs的发病有关;这种HLA关联提出了一种可能的替代机制假说。IIHs也可能与由垂体特异性抗原异位表达引发的副肿瘤综合征有关。与严重急性呼吸综合征冠状病毒2(SARS-CoV-)相关的垂体炎:最近,文献报道了与SARS-CoV-2病毒相关的垂体炎病例;长期新冠病毒感染也可能表现为漏斗-神经垂体炎。该病毒通过刺突蛋白与毛细血管内皮结合,因其与血管紧张素转换酶受体的独特相互作用而进入中枢神经系统,并直接损伤垂体细胞。SARS-CoV-2的作用可能通过炎症和细胞因子释放间接发生。确切机制仍不明确。关于与SARS-CoV-2疫苗相关的内分泌并发症的现有数据很少。尽管如此,仍有孤立的垂体炎病例记录在案。垂体炎的治疗:糖皮质激素是治疗原发性垂体炎的基石,因为它们对炎症有针对性作用。更好地了解垂体炎的病因发病机制和分子机制可以导致更有效和个性化的治疗策略。