Systematic thyroid screening in myotonic dystrophy: link between thyroid volume and insulin resistance.

ABSTRACT: BACKGROUND: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. RESULTS: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?

SUBMITTER: Ben Hamou A 

PROVIDER: S-EPMC6375124 | biostudies-literature | 2019 Feb

REPOSITORIES: biostudies-literature