甲状腺腺瘤青春期男性甲状腺结合球蛋白缺乏的甲状腺腺瘤

IF 1 Q4 ENDOCRINOLOGY & METABOLISM Clinical Pediatric Endocrinology Pub Date : 2023-01-01 DOI:10.1297/cpe.2023-0031
Heeyung Kim, Yasuhiro Naiki, Megumi Iwahashi-Odano, Satoshi Narumi, Koichi Ito, Akira Ishiguro
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引用次数: 0

摘要

甲状腺素结合球蛋白(TBG-CD)的完全缺乏通常与临床症状无关,并且对与TBG-CD相关的甲状腺肿瘤知之甚少。我们提出一个病例报告无症状滤泡腺瘤自发萎缩的患者与TBG-CD。先前健康的13岁男性表现为弥漫性甲状腺肿大。甲状腺功能检查显示总甲状腺素和TBG浓度低,提示TBG缺乏。超声示甲状腺轻度肿胀,左叶结节(14 × 12 × 19 mm)。外周血的遗传分析揭示了先前报道的SERPINA7变异,导致TBG功能完全丧失。结节经细针穿刺确认为滤泡性腺瘤。随后,腺瘤在未经治疗的情况下缩小。这个青春期的病例提示,对TBG缺乏患者的滤泡性腺瘤进行仔细的超声观察是必要的,并且可能不需要治疗。
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A thyroid adenoma in a pubertal male with thyroxine-binding globulin deficiency
Complete deficiency of thyroxin-binding globulin (TBG-CD) is not commonly associated with clinical symptoms, and little is known about thyroid tumors associated with TBG-CD. We present a case report of an asymptomatic follicular adenoma that spontaneously shrank in a patient with TBG-CD. A previously healthy 13-yr-old male presented with a diffusely swollen thyroid gland. Thyroid function tests revealed low total thyroxin and TBG concentrations, indicating a TBG deficiency. Ultrasonography revealed a mildly swollen thyroid gland with a nodule (14 × 12 × 19 mm) in the left lobe. Genetic analysis of peripheral blood revealed a previously reported SERPINA7 variant, which resulted in complete loss of TBG function. The nodule was identified as a follicular adenoma using fine-needle aspiration. Subsequently, the adenoma shrank without treatment. This pubertal case suggests that careful observation with ultrasonography is warranted for follicular adenoma in patients with TBG deficiency and that treatment may not be required.
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来源期刊
Clinical Pediatric Endocrinology
Clinical Pediatric Endocrinology ENDOCRINOLOGY & METABOLISM-
CiteScore
2.40
自引率
7.10%
发文量
34
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