甲狀腺激素抵抗綜合征合并甲狀腺乳頭狀癌、馬德龍病一例
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摘要：甲狀腺激素抵抗綜合征合并甲狀腺乳頭狀癌臨床少見。馬德龍病是一種罕見的脂質(zhì)代謝紊亂。本文對1例甲狀腺激素抵抗綜合征合并甲狀腺乳頭狀癌、馬德龍病進(jìn)行臨床資料分析，采用高通量測序?qū)颊咄庵苎獦颖具M(jìn)行全外顯子基因檢測，并對國內(nèi)外相關(guān)文獻(xiàn)進(jìn)行回顧性分析，旨在為臨床診治提供經(jīng)驗(yàn)。
關(guān)鍵詞：甲狀腺激素抵抗綜合征；甲狀腺乳頭狀癌；馬德龍病
中圖分類號(hào)： R581.9 文獻(xiàn)標(biāo)識(shí)碼： B 文章編號(hào)：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
甲狀腺激素抵抗（resistance to thyroid hormone，RTH）是靶組織對甲狀腺激素反應(yīng)性降低導(dǎo)致的綜合征，典型生化特征是血清游離三碘甲狀腺原氨酸（free triiodothyronine，F(xiàn)T3）和游離甲狀腺素（free thyroxin，F(xiàn)T4）水平升高而促甲狀腺激素（thyroid stimulating hormone，TSH）在正常范圍或輕度升高，其中大多數(shù)是由甲狀腺激素受體β（thyroid hormone receptor β，THRβ）突變所致［1］。（剩余8657字）