选择性垂体性甲状腺素受体不敏感综合征1例
摘要
1病例资料患者，女，17岁，慢性病程，因反复心悸、大汗伴颈部肿大1年余入院，患者1年前无明显诱因下出现心悸，活动后明显加重，静息时亦可出现，有怕热、多汗，易饥、多食、体质量下降（近3个月体质量下降5kg），伴颈部对称性肿大，烦躁失眠，无突眼、畏光、复视，无眼部肿痛、异物感。为求诊治，遂来我院门诊就医，
出处
《临床医学》
CAS
2016年第5期124-125,共2页
Clinical Medicine
参考文献4
-
1Mamanasiri S,Yesil S,Dumitrescu AM,et al. Mosaicism of a thyroid hor- mone receptor eta gene mutation in resistance to thyroid hormone [ J ~. J Clin Endoccinol Metah ,2006,91 (9) :3471 - 3477.
-
2Kim HK,Kim D,Yoo EH,et al. A case of resistance to thyroid hormone with thyroid cancer[J]. J Korean Med Sci, 2010,25(9):1368 -1371.
-
3伍宁玲,吕朝晖.甲状腺激素不敏感综合征诊疗综述[J].药品评价,2014,0(23):30-34. 被引量：2
-
4何戎华.甲状腺激素抵抗综合征三例[J].中华内分泌代谢杂志,2003,19(2):150-151. 被引量：4
二级参考文献18
-
1Refetoff S,DeWind LT,DeGroot LJ.Familial syndrome combining deaf-mutism,stuppled epiphyses,goiter and abnormally high PBI:possible target organ refractoriness to thyroid hormone[J].J Clin Endocrinol Metab,1967,27(2):279-294.
-
2Tajima T,Jo W,Fujikura K,et al.Elevated free thyroxine levels detected by a neonatal screening system[J].Pediatr Res,2009,66:312-316.
-
3Dumitrescu AM,Refetoff S.The syndromes of reduced sensitivity to thyroid hormone[J].Biochim Biophys Acta,2013,1830:3987-4003.
-
4Dumitrescu AM,Refetoff S.Reduced sensitivity to Thyroid Hormone:Defects of Transport,Metabolism and Action(Chapter 58).In Werner & Ingbar's The Thyroid:A Fundamental and Clinical Text.Braverman,L E-,and Cooper D.S.(eds.),Wolters Kluver / Lippincott,Williams & Wilkins Publications,Philadelphia,PA.
-
5Refetoff S,Dumitrescu AM.Syndromes of reduced sensitivity to thyroid hormone:genetic defects in hormone receptors,cell transporters and deiodination[J],Best Pract Res Clin Endocrinol Metab,2007,21:277-305.
-
6Rosen MD,Privalskyr ML.Thyroid hormone receptor mutations in cancer and resistance to thyroid hormone:perspective and prognosis[J]. J Thyroid Res,2011,36:130-134.
-
7Keogh JM,Henning E,Reinemund J,et al.A mutation in the thyroid hormone receptor alpha gene[J].N Engl J Med,2012,366:243-249.
-
8Dumitrescu AM,Liao XH,Best TB,et al.A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene[J],Am J Hum Genet,2004,74:168-175.
-
9Di Cosmo C,McLellan N,Liao XH,et al.Clinical and molecular characterization of novel selenocysteine insertion sequence-binding protein 2(SBP2)gene mutation(R128X)[J].Clin Endocrinol Metab,2009,94:4003-4009.
-
10Refetoff S.The syndrome of resistance to thyroid stimulating hormone[J].J Chin Med Assoc,2003,66:441-452.
共引文献4
-
1张继春,王社教,郑向红,宁宁,雷亚梅,宋厂义.甲状腺激素抵抗综合征二例[J].临床误诊误治,2009,22(10):27-28.
-
2杨宇虹,左爱军,朱志峰,赵学勤,郭刚,张镜宇.甲状腺激素对成骨样MG-63细胞甲状腺激素受体不同亚型表达的影响[J].中华内分泌代谢杂志,2011,27(3):242-245. 被引量：2
-
3霍媛媛,李社莉.甲状腺激素不敏感综合征误诊报告[J].临床误诊误治,2017,30(2):43-45.
-
4刘永煌,郭丛兰.青春期发育对桥本氏甲状腺炎并甲状腺功能减退患者甲状腺功能影响的临诊应对[J].右江医学,2019,47(3):239-240.
-
1罗莉,吴可贵,徐国焱,蔡洪斌,苏津自.病例111:心脏扩大[J].中华高血压杂志,2011,19(8):792-796.
-
2罗莉,吴可贵.病例111:心脏扩大[J].中华高血压杂志,2011,19(6):577-577.
-
3师作范,王晓亮.慢性前列腺炎对精液常规检验结果的影响[J].中国社区医师（医学专业）,2009,11(6):76-76. 被引量：1
-
4冯强,刘敏,彭其毅,曾昭书,廖志钢,吴家■.在大鼠颅脑损伤慢性病程中BCL-2蛋白的表达[J].中国法医学杂志,1999,14(3):138-140.
-
5崔勇,潘源,王麒,卢亦成.垂体腺瘤合并垂体脓肿、垂体性甲亢1例[J].中国微侵袭神经外科杂志,2011,16(3):112-112.
-
6段玉静,柴华旗.364例肾活检病例的临床与病理分析[J].浙江临床医学,2014,16(4):611-612. 被引量：1
-
7杨永华,罗志伟,董建平,顾伟红.老年人慢性硬膜下血肿52例临床特点及治疗[J].云南医药,2009,30(2):178-179. 被引量：2
-
8李素明,周福贻.腰椎间盘突出症研究近况[J].江西中医药,2002,33(3):54-56. 被引量：20
-
9孙昱皓,卞留贯,孙青芳,李云峰,沈建康,苏颋为,王卫庆,宁光.垂体性库欣病经蝶手术治疗后的延迟缓解[J].中国微侵袭神经外科杂志,2013,18(1):5-8. 被引量：6
-
10郭玉生,肖东星.前列腺囊肿三例报告[J].现代泌尿外科杂志,1999,4(3):170-170. 被引量：1
