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

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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。

关键词：甲状腺激素抵抗综合征；甲状腺乳头状癌；马德龙病

中图分类号： R581.9  文献标识码： B  文章编号：1000-503X（2024）05-0783-05

DOI：10.3881/j.issn.1000-503X.15913

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

MA Xiaohan，LIU Ruiqi，CHEN Xue，ZHAO Ruxing，HE Qin，DONG Ming

Department of Endocrinology and Metabolism，Qilu Hospital of Shandong University，Jinan 25001 China

Corresponding author：DONG Ming Tel：0531-82165030，E-mail：dr_dongming@email.sdu.edu.cn

ABSTRACT：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.

Key words：thyroid hormone resistance syndrome；papillary thyroid carcinoma；Madelung’s disease

Acta Acad Med Sin，2024，46（5）：783-787

甲状腺激素抵抗（resistance to thyroid hormone，RTH）是靶组织对甲状腺激素反应性降低导致的综合征，典型生化特征是血清游离三碘甲状腺原氨酸（free triiodothyronine，FT3）和游离甲状腺素（free thyroxin，FT4）水平升高而促甲状腺激素（thyroid stimulating hormone，TSH）在正常范围或轻度升高，其中大多数是由甲状腺激素受体β（thyroid hormone receptor β，THRβ）突变所致［1］。（剩余8657字）