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 cen...
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doaj-cbd301d446f34152897bb31d0ebdcc272020-11-25T02:09:58ZengBMCOrphanet Journal of Rare Diseases1750-11722019-02-0114111010.1186/s13023-019-1019-3Systematic thyroid screening in myotonic dystrophy: link between thyroid volume and insulin resistanceAdrien Ben Hamou0Stéphanie Espiard1Christine Do Cao2Miriam Ladsous3Camille Loyer4Alexandre Moerman5Samuel Boury6Maéva Kyheng7Claire-Marie Dhaenens8Vincent Tiffreau9Pascal Pigny10Gilles Lebuffe11Robert Caiazzo12Sébastien Aubert13Marie Christine Vantyghem14CHU Lille, Endocrinology, Diabetology and MetabolismCHU Lille, Endocrinology, Diabetology and MetabolismCHU Lille, Endocrinology, Diabetology and MetabolismCHU Lille, Endocrinology, Diabetology and MetabolismCHU Lille, Endocrinology, Diabetology and MetabolismCHU Lille, Clinical GeneticsCHU Lille, RadiologyCHU Lille, EA 2694 – Public Health, Epidemiology and Quality of CareUniv Lille, Inserm, CHU Lille, UMR 837-1, Alzheimer & TauopathiesCHU Lille Neuromuscular Reference CenterCHU Lille, Institute of Biochemistry and Molecular Biology – Biology CenterCHU Lille, AnesthesiologyCHU Lille, General and Endocrine SurgeryCHU Lille, Institute of Biochemistry and Molecular Biology – Pathology CenterCHU Lille, Endocrinology, Diabetology and MetabolismAbstract 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 < 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. Conclusion 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.http://link.springer.com/article/10.1186/s13023-019-1019-3Myotonic dystrophyPapillary thyroid carcinomaUltrasound scanThyroid noduleThyroid goiter |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Adrien Ben Hamou Stéphanie Espiard Christine Do Cao Miriam Ladsous Camille Loyer Alexandre Moerman Samuel Boury Maéva Kyheng Claire-Marie Dhaenens Vincent Tiffreau Pascal Pigny Gilles Lebuffe Robert Caiazzo Sébastien Aubert Marie Christine Vantyghem |
spellingShingle |
Adrien Ben Hamou Stéphanie Espiard Christine Do Cao Miriam Ladsous Camille Loyer Alexandre Moerman Samuel Boury Maéva Kyheng Claire-Marie Dhaenens Vincent Tiffreau Pascal Pigny Gilles Lebuffe Robert Caiazzo Sébastien Aubert Marie Christine Vantyghem Systematic thyroid screening in myotonic dystrophy: link between thyroid volume and insulin resistance Orphanet Journal of Rare Diseases Myotonic dystrophy Papillary thyroid carcinoma Ultrasound scan Thyroid nodule Thyroid goiter |
author_facet |
Adrien Ben Hamou Stéphanie Espiard Christine Do Cao Miriam Ladsous Camille Loyer Alexandre Moerman Samuel Boury Maéva Kyheng Claire-Marie Dhaenens Vincent Tiffreau Pascal Pigny Gilles Lebuffe Robert Caiazzo Sébastien Aubert Marie Christine Vantyghem |
author_sort |
Adrien Ben Hamou |
title |
Systematic thyroid screening in myotonic dystrophy: link between thyroid volume and insulin resistance |
title_short |
Systematic thyroid screening in myotonic dystrophy: link between thyroid volume and insulin resistance |
title_full |
Systematic thyroid screening in myotonic dystrophy: link between thyroid volume and insulin resistance |
title_fullStr |
Systematic thyroid screening in myotonic dystrophy: link between thyroid volume and insulin resistance |
title_full_unstemmed |
Systematic thyroid screening in myotonic dystrophy: link between thyroid volume and insulin resistance |
title_sort |
systematic thyroid screening in myotonic dystrophy: link between thyroid volume and insulin resistance |
publisher |
BMC |
series |
Orphanet Journal of Rare Diseases |
issn |
1750-1172 |
publishDate |
2019-02-01 |
description |
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 < 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. Conclusion 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. |
topic |
Myotonic dystrophy Papillary thyroid carcinoma Ultrasound scan Thyroid nodule Thyroid goiter |
url |
http://link.springer.com/article/10.1186/s13023-019-1019-3 |
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