甲状腺激素抵抗综合征合并甲状腺乳头状癌、马德龙病一例  

Thyroid Hormone Resistance Syndrome Complicated With Papillary Thyroid Carcinoma and Madelung’s Disease:Report of One Case

作　　者：马晓晗 刘睿琪 陈雪 赵汝星[1] 何芹[1] 董明[1] MA Xiaohan;LIU Ruiqi;CHEN Xue;ZHAO Ruxing;HE Qin;DONG Ming(Department of Endocrinology and Metabolism,Qilu Hospital of Shandong University,Jinan 250012,China)

机构地区：[1]山东大学齐鲁医院内分泌与代谢病科,济南250012

出　　处：《中国医学科学院学报》2024年第5期783-787,共5页Acta Academiae Medicinae Sinicae

基　　金：山东省自然科学基金(ZR2022MH182)。

摘　　要：甲状腺激素抵抗综合征合并甲状腺乳头状癌临床少见。马德龙病是一种罕见的脂质代谢紊乱。本文对1例甲状腺激素抵抗综合征合并甲状腺乳头状癌、马德龙病进行临床资料分析,采用高通量测序对患者外周血样本进行全外显子基因检测,并对国内外相关文献进行回顾性分析,旨在为临床诊治提供经验。Thyroid hormone resistance syndrome complicated with papillary thyroid cancer is clinically rare.Madelung’s disease is a rare disorder of lipid metabolism.We analyzed the clinical data of a case of thyroid hormone resistance syndrome complicated with papillary thyroid carcinoma and Madelung’s disease,performed whole-exon sequencing for the patient’s peripheral blood samples,and retrospectively analyzed the relevant literature.This review is expected to provide experience for clinical diagnosis and treatment.

关 键 词：甲状腺激素抵抗综合征 甲状腺乳头状癌 马德龙病 

分 类 号：R581.9[医药卫生—内分泌]