CHU Lille, Endocrinology, Diabetology and Metabolism, F-59000, Lille, France.
Department of Endocrinology, Diabetology and Metabolism, CHR-U Lille, 1, Rue Polonovski, 59037, Lille, France.
Orphanet J Rare Dis. 2019 Feb 13;14(1):42. doi: 10.1186/s13023-019-1019-3.
Myotonic dystrophy (DM1), a neuromuscular disease related to DMPK gene mutations, is associated to endocrine disorders and cancer. A routine endocrine work-up, including thyroid ultrasound (US), was conducted in 115 genetically-proven DM1 patients in a neuromuscular reference center. The aim of this study was to determine the prevalence and the causes of US thyroid abnormalities in DM1.
In the whole population (age 45.1 ± 12.2 years, 61.7% female), palpable nodules or goiters were present in 29.2%. The percentage of US goiter (thyroid volume > 18 mL) and US nodules were, respectively, 38.3 and 60.9%. Sixteen of the 115 patients had a thyroidectomy, after 22 fine-needle aspiration cytology guided by thyroid imaging reporting and data system (TIRADS) classification. Six micro- (1/6 pT3) and 3 macro-papillary thyroid carcinoma (PTCs) (2/3 intermediate risk) were diagnosed (7.9% of 115). Thyroid US led to the diagnosis of 4 multifocal and 2 unifocal (including 1 macro-PTC) non-palpable PTCs. Ultrasound thyroid volume was positively correlated to body mass index (BMI) (p = 0.015) and parity (p = 0.036), and was inversely correlated to TSH (p < 0.001) and vitamin D levels (p = 0.023). The BMI, the frequencies of glucose intolerance and PTC were significantly higher in UsGoiter versus non-UsGoiter groups.
In this systematically screened DM1 cohort, the frequency of UsGoiter, mainly associated to BMI, was about 40%, US nodules 60%, thyroidectomies 13-14%, and PTCs 8%, two-thirds of them being micro-PTCs with good prognosis. Therefore, a systematic screening remains debatable. A targeted US screening in case of clinical abnormality or high BMI seems more appropriate.
肌强直性营养不良（DM1）是一种与 DMPK 基因突变相关的神经肌肉疾病，与内分泌紊乱和癌症有关。在一家神经肌肉疾病参考中心，对 115 名经基因证实的 DM1 患者进行了常规内分泌检查，包括甲状腺超声（US）检查。本研究旨在确定 DM1 患者 US 甲状腺异常的患病率和病因。
在整个人群（年龄 45.1±12.2 岁，女性占 61.7%）中，触诊到结节或甲状腺肿的患者占 29.2%。US 甲状腺肿（甲状腺体积>18 毫升）和 US 结节的百分比分别为 38.3%和 60.9%。115 例患者中有 16 例行甲状腺切除术，这 16 例均在甲状腺成像报告和数据系统（TIRADS）分类指导下行甲状腺细针抽吸细胞学检查。诊断出 6 例微小（1/6 为 pT3）和 3 例大乳头甲状腺癌（PTC）（2/3 为中危）（115 例中的 7.9%）。甲状腺 US 还诊断出 4 例多灶性和 2 例单灶性（包括 1 例大 PTC）非触诊性 PTC。超声甲状腺体积与体重指数（BMI）呈正相关（p=0.015），与产次呈负相关（p=0.036），与 TSH 呈负相关（p<0.001），与维生素 D 水平呈负相关（p=0.023）。与非 US 甲状腺肿组相比，US 甲状腺肿组的 BMI、葡萄糖耐量异常和 PTC 发生率显著更高。
在本系统筛查的 DM1 队列中，US 甲状腺肿的频率（主要与 BMI 相关）约为 40%，US 结节为 60%，甲状腺切除术为 13-14%，PTC 为 8%，其中三分之二为预后良好的微小 PTC。因此，系统筛查仍存在争议。针对临床异常或 BMI 较高的患者进行有针对性的 US 筛查似乎更为合适。
