Studies of Thyroid Function in Health and Disease

本自然史方案积极招募已知或疑似甲状腺异常的任何年龄的受试者。 所研究的疾病可以广义地定义为甲状腺功能亢进或甲状腺功能减退状态和实验室异常。 甲状腺功能亢进状态包括但不限于伴或不伴甲状腺外表现的Graves病;亚急性甲状腺炎;无症状甲状腺炎;单个或多个功能亢进甲状腺结节;碘诱导的甲状腺功能亢进;甲状腺激素的超敏给药;滋养层肿瘤;由产生TSH的垂体瘤或非肿瘤原因引起的TSH“不适当”分泌，即垂体抵抗甲状腺激素的作用。 甲状腺功能减退状态包括由于发育不全、自身免疫或医源性原因引起的原发性甲状腺功能衰竭;（或垂体）甲状腺功能减退，通常由非促甲状腺激素来源的垂体肿瘤引起，如生长激素（GH）分泌肿瘤或泌乳素瘤;叔（或下丘脑）甲状腺功能减退，通常由下丘脑激素促甲状腺激素释放激素（TRH）缺乏引起，病因不明或继发于垂体瘤;无生物活性的TSH，与下丘脑激素的内源性异常有关或继发于垂体瘤（通常与TSH分子的异常糖基化模式有关）;对甲状腺激素（RTH）的全身性抵抗，这是一种已被证明是由于TH受体异常引起的疾病。 此外，研究了导致甲状腺功能异常的条件或状态，包括非甲状腺疾病;血清TH结合蛋白异常导致甲状腺功能正常的高甲状腺素血症或高三碘甲状腺原氨酸血症;甲状腺素结合球蛋白（TBG）的遗传缺陷; TSH或其他甲状腺激素测定中的抗体干扰。最近，反射质量分光光度法被用于进一步诊断该患者队列中的甲状腺功能障碍，从而能够比较质量分光光度法和标准免疫测定法在诊断甲状腺疾病中的诊断准确性。

Subjects of any age with known or suspected thyroid abnormalities are actively recruited to this natural history protocol. The disorders studied can be broadly defined as hyper- or hypothyroid states and laboratory abnormalities. Hyperthyroid states include but are not restricted to Graves' disease with or without extrathyroidal manifestations; subacute thyroiditis; silent thyroiditis; single or multiple hyperfunctioning thyroid nodules; iodide-induced hyperthyroidism; surreptitious administration of thyroid hormone; trophoblastic neoplasms; "inappropriate" secretion of TSH arising from TSH- producing pituitary tumors or from a non-neoplastic cause, i.e. pituitary resistance to the action of thyroid hormone. Hypothyroid states include primary thyroid failure due to agenesis, autoimmunity or iatrogenic causes; secondary (or pituitary) hypothyroidism, usually resulting from tumors of the pituitary of non-thyrotropic origin such, as growth hormone (GH)-secreting tumors or prolactinomas; tertiary (or hypothalamic) hypothyroidism, usually resulting from a deficiency in the hypothalamic hormone thyrotropin-releasing hormone (TRH), either of unknown etiology or secondary to a pituitary tumor; bio-inactive TSH, either relating to an endogenous abnormality of hypothalamic hormones or secondary to pituitary tumors (and usually related to abnormal glycosylation patterns of the TSH molecule); generalized resistance to thyroid hormone (RTH), a disease which has been shown to be due to abnormalities in the TH receptor. Additionally, conditions or states that result in abnormal thyroid function tests are studied including non-thyroidal illness; abnormalities of serum TH binding proteins leading to euthyroid hyperthyroxinemia or hypertriiodothyronemia; genetic deficiency of thyroxine-binding globulin (TBG); antibody interference in TSH or other thyroid hormone assays. Recently, reflex mass spectrophotometry is utilized to further diagnose the thyroid dysfunction in this cohort of patients, thus enabling comparison of diagnostic accuracy between the mass spectrophotometry and standard immunoassays in diagnosing thyroid disorders.