虽然典型的显性原发性甲状腺功能减退症会出现一系列可通过 TSH 升高确认的身体症状和征象,但多达一半的患者没有症状或仅有非特异性且不明确的甲状腺功能减退症状。[2]Hueston WJ. Treatment of hypothyroidism. Am Fam Physician. 2001;64:1717-1724.http://www.aafp.org/afp/20011115/1717.htmlhttp://www.ncbi.nlm.nih.gov/pubmed/11759078?tool=bestpractice.com[5]Roberts CG, Ladenson PW. Hypothyroidism. Lancet. 2004;363:793-803.http://www.ncbi.nlm.nih.gov/pubmed/15016491?tool=bestpractice.com[14]Ladenson PW, Singer PA, Ain KB, et al. American Thyroid Association guidelines for detection of thyroid dysfunction. Arch Intern Med. 2000;160:1573-1575.http://www.endo.org/club/ata.pdfhttp://www.ncbi.nlm.nih.gov/pubmed/10847249?tool=bestpractice.com
临床评估
甲状腺功能减退症的常见症状包括虚弱、困倦、疲乏、声嘶、冷觉、健忘、便秘和体重增加。[2]Hueston WJ. Treatment of hypothyroidism. Am Fam Physician. 2001;64:1717-1724.http://www.aafp.org/afp/20011115/1717.htmlhttp://www.ncbi.nlm.nih.gov/pubmed/11759078?tool=bestpractice.com[5]Roberts CG, Ladenson PW. Hypothyroidism. Lancet. 2004;363:793-803.http://www.ncbi.nlm.nih.gov/pubmed/15016491?tool=bestpractice.com 常见的体征包括言语迟钝和运动缓慢;皮肤粗糙、干燥;眼睑水肿;舌头增厚;面部水肿;心动过缓;舒张期高血压;脉压小;以及肌腱反射延迟。[2]Hueston WJ. Treatment of hypothyroidism. Am Fam Physician. 2001;64:1717-1724.http://www.aafp.org/afp/20011115/1717.htmlhttp://www.ncbi.nlm.nih.gov/pubmed/11759078?tool=bestpractice.com[5]Roberts CG, Ladenson PW. Hypothyroidism. Lancet. 2004;363:793-803.http://www.ncbi.nlm.nih.gov/pubmed/15016491?tool=bestpractice.com[14]Ladenson PW, Singer PA, Ain KB, et al. American Thyroid Association guidelines for detection of thyroid dysfunction. Arch Intern Med. 2000;160:1573-1575.http://www.endo.org/club/ata.pdfhttp://www.ncbi.nlm.nih.gov/pubmed/10847249?tool=bestpractice.com 甲状腺肿通常不常见。它在发展中国家/地区和欧洲部分国家/地区(例如意大利、西班牙、葡萄牙和德国)较为常见。[4]Delange F, de Benoist B, Pretell E, et al. Iodine deficiency in the world: where do we stand at the turn of the century? Thyroid. 2001;11:437-447.http://www.ncbi.nlm.nih.gov/pubmed/11396702?tool=bestpractice.com[5]Roberts CG, Ladenson PW. Hypothyroidism. Lancet. 2004;363:793-803.http://www.ncbi.nlm.nih.gov/pubmed/15016491?tool=bestpractice.com[6]Andersson M, Karumbunathan V, Zimmermann MB. Global iodine status in 2011 and trends over the past decade. J Nutr. 2012;142:744-750.http://jn.nutrition.org/content/142/4/744.longhttp://www.ncbi.nlm.nih.gov/pubmed/22378324?tool=bestpractice.com
诊断性检查
TSH 是最敏感且最具特异性的原发性甲状腺功能减退症诊断指标。如果临床上疑似甲状腺功能减退症,则应在初始病情检查时使用此方法。[14]Ladenson PW, Singer PA, Ain KB, et al. American Thyroid Association guidelines for detection of thyroid dysfunction. Arch Intern Med. 2000;160:1573-1575.http://www.endo.org/club/ata.pdfhttp://www.ncbi.nlm.nih.gov/pubmed/10847249?tool=bestpractice.com TSH 的正常范围为 0.5-5 mIU/L(不同实验室的标准可能稍有不同)。虽然 TSH 水平在发生原发性甲状腺功能减退症时表现为升高,但在亚临床性疾病中,TSH 水平可能仅是轻度升高。
因此,为量化甲状腺功能减退症的程度或确诊亚临床性甲状腺功能减退症,应检测游离 T4 的水平。[3]Cooper DS. Clinical practice. Subclinical hypothyroidism. N Engl J Med. 2001;345:260-265.http://www.ncbi.nlm.nih.gov/pubmed/11474665?tool=bestpractice.com[14]Ladenson PW, Singer PA, Ain KB, et al. American Thyroid Association guidelines for detection of thyroid dysfunction. Arch Intern Med. 2000;160:1573-1575.http://www.endo.org/club/ata.pdfhttp://www.ncbi.nlm.nih.gov/pubmed/10847249?tool=bestpractice.com 游离 T4 的正常范围是 9.00-23.12 pmol/L (0.8-1.8 ng/dL)。如果 TSH 仅轻度升高,患者无症状,且血清游离 T4 正常,则诊断为亚临床性甲状腺功能减退症。[3]Cooper DS. Clinical practice. Subclinical hypothyroidism. N Engl J Med. 2001;345:260-265.http://www.ncbi.nlm.nih.gov/pubmed/11474665?tool=bestpractice.com
自身抗体检测有助于鉴别病因,但在确诊后则不一定是必须进行的检查。[2]Hueston WJ. Treatment of hypothyroidism. Am Fam Physician. 2001;64:1717-1724.http://www.aafp.org/afp/20011115/1717.htmlhttp://www.ncbi.nlm.nih.gov/pubmed/11759078?tool=bestpractice.com 建议应针对 TSH 浓度>2.5 mIU/L 的妊娠女性评估甲状腺过氧化物酶抗体 (thyroid peroxidase antibody, TPOAb) 状态。[15]Alexander EK, Pearce EN, Brent GA, et al. 2017 Guidelines of the American Thyroid Association for the diagnosis and management of thyroid disease during pregnancy and the postpartum. Thyroid. 2017;27:315-389.http://online.liebertpub.com/doi/pdfplus/10.1089/thy.2016.0457http://www.ncbi.nlm.nih.gov/pubmed/28056690?tool=bestpractice.com
为谨慎起见,应对有非特异性疲劳和体重增加表现的患者检测 TSH、全血细胞计数 (FBC) 和空腹血糖。血清胆固醇可能升高,但通常可以随甲状腺功能减退症的治疗而改善。
偶有可能发现血清钠偏低和血清 CK 升高,这可提示出现原发性甲状腺功能减退症。