Resistance to thyroid hormone and nonfunctioning pituitary microadenoma in a 13-year-old boy with THRB mutation.

IF 2.8 Q3 ENDOCRINOLOGY & METABOLISM Annals of Pediatric Endocrinology & Metabolism Pub Date : 2024-02-01 Epub Date: 2024-01-28 DOI:10.6065/apem.2346056.028
Jiyeon Kim, Eu Seon Noh, Min-Sun Kim, Jong-Moon Choi, Sae-Mi Lee, Sung Yoon Cho
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一名13岁男孩因THRB基因突变而出现甲状腺激素抵抗和无功能垂体微腺瘤。
甲状腺激素抵抗(RTH)是一种罕见的综合征,以血清游离碘甲腺原氨酸水平升高和促甲状腺激素(TSH)不受抑制为特征。RTH最常见的病因是甲状腺激素受体β基因(THRB)的杂合子致病突变。由于生化特征相似,RTHβ和分泌促甲状腺激素的垂体腺瘤(TSHoma)之间的鉴别诊断非常重要,而准确的RTHβ诊断对于防止治疗不当至关重要。一名13岁的男孩因患有微腺瘤和使用甲巯咪唑一年多仍无法控制的甲状腺功能亢进症而被转诊至我院。他患有甲状腺毒症,血清T3和fT4升高,促甲状腺激素和其他垂体激素在正常范围。TSH 受体抗体检测不到,垂体磁共振成像显示有一个 3 毫米大小的微腺瘤。TRH刺激试验显示促甲状腺激素反应正常,促甲状腺激素-α亚基水平没有升高,这与RTH相符。根据在 THRB 中发现的 c.1021C>G (p.Leu341Val)杂合突变,患者被诊断为 RTHβ 和并存的无功能垂体微腺瘤。患者停止甲巯咪唑治疗,开始使用β肾上腺素能阻断剂,随后甲亢症状得到缓解。目前,仅有一例儿科病例被诊断为 RTH 和 TSH 瘤,本病例是首次报道 RTH 和无功能垂体微腺瘤并存的儿科病例。此外,本病例还表明,甲状腺激素的不当分泌需要仔细的临床诊断,以避免不必要的、可能有害的处理。
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来源期刊
CiteScore
4.00
自引率
18.20%
发文量
59
审稿时长
24 weeks
期刊介绍: The Annals of Pediatric Endocrinology & Metabolism Journal is the official publication of the Korean Society of Pediatric Endocrinology. Its formal abbreviated title is “Ann Pediatr Endocrinol Metab”. It is a peer-reviewed open access journal of medicine published in English. The journal was launched in 1996 under the title of ‘Journal of Korean Society of Pediatric Endocrinology’ until 2011 (pISSN 1226-2242). Since 2012, the title is now changed to ‘Annals of Pediatric Endocrinology & Metabolism’. The Journal is published four times per year on the last day of March, June, September, and December. It is widely distributed for free to members of the Korean Society of Pediatric Endocrinology, medical schools, libraries, and academic institutions. The journal is indexed/tracked/covered by web sites of PubMed Central, PubMed, Emerging Sources Citation Index (ESCI), Scopus, EBSCO, EMBASE, KoreaMed, KoMCI, KCI, Science Central, DOI/CrossRef, Directory of Open Access Journals(DOAJ), and Google Scholar. The aims of Annals of Pediatric Endocrinology & Metabolism are to contribute to the advancements in the fields of pediatric endocrinology & metabolism through the scientific reviews and interchange of all of pediatric endocrinology and metabolism. It aims to reflect the latest clinical, translational, and basic research trends from worldwide valuable achievements. In addition, genome research, epidemiology, public education and clinical practice guidelines in each country are welcomed for publication. The Journal particularly focuses on research conducted with Asian-Pacific children whose genetic and environmental backgrounds are different from those of the Western. Area of specific interest include the following : Growth, puberty, glucose metabolism including diabetes mellitus, obesity, nutrition, disorders of sexual development, pituitary, thyroid, parathyroid, adrenal cortex, bone or other endocrine and metabolic disorders from infancy through adolescence.
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