Glasgow Katie, Jiminez Victoria, Garcia Natalie, Gillis Andrea
Department of Surgery, University of Utah, USA.
Heersink School of Medicine, University of Alabama at Birmingham, USA.
Heliyon. 2024 Jun 22;10(12):e33420. doi: 10.1016/j.heliyon.2024.e33420. eCollection 2024 Jun 30.
A man, in his 30s, with a history of obesity and hypothyroidism planned to begin taking a new Glucagon-like peptide-1 (GLP-1) agonist for weight loss. As these medications have been associated with C-cell hyperplasia, a calcitonin level was checked as evaluation prior to starting the drug. This returned at 131 pg/mL (upper limit of normal<10 pg/mL), and a subsequent carcinoembryonic antigen was 5.2 ng/mL (ref<3 ng/mL). Thyroid ultrasound was performed and demonstrated bilateral subcentimeter nodules. After total thyroidectomy, final pathology demonstrated bilateral 0.8 cm medullary thyroid carcinoma. Genetic testing revealed a NM_020975.6: c.1826G > A; p.Cys609Tyr. germline RET mutation, confirming the diagnosis of multiple endocrine neoplasia 2 syndrome. The patient recovered well from treatment. His first-degree relatives also underwent genetic testing. This case represents a surprising diagnosis of familial multiple endocrine neoplasia 2A prior to starting a Glucagon-like peptide-1 agonist.
一名30多岁的男性，有肥胖和甲状腺功能减退病史，计划开始服用一种新的胰高血糖素样肽-1（GLP-1）激动剂来减肥。由于这些药物与C细胞增生有关，在开始用药前检查了降钙素水平作为评估。结果为131 pg/mL（正常上限<10 pg/mL），随后癌胚抗原为5.2 ng/mL（参考值<3 ng/mL）。进行了甲状腺超声检查，显示双侧有小于1厘米的结节。全甲状腺切除术后，最终病理显示双侧0.8厘米甲状腺髓样癌。基因检测发现一个NM_020975.6:c.1826G>A；p.Cys609Tyr胚系RET突变，确诊为多发性内分泌腺瘤2型综合征。患者治疗后恢复良好。他的一级亲属也接受了基因检测。该病例代表了在开始使用胰高血糖素样肽-1激动剂之前，意外诊断出家族性多发性内分泌腺瘤2A型。
