ECE2017 Eposter Presentations: Thyroid Thyroid (non-cancer) (260 abstracts)
A higher frequency of papillary thyroid carcinoma in myotonic dystrophy
Adrien Ben Hamou 1, , Claire Marie Dhaenens 1, , Stephanie Espiard 1, , Kanza Benomar 1, , Vincent Tiffreau 1, , Robert Caiazzo 1, , Sebastien Aubert 1, & Marie Christine Vantyghem 1,
1Lille University Hospital, Lille, France; 2Endocrinology, Diabetology and Metabolism, Lille, France; 3Endocrine Surgery Unit, Lille, France; 4Institute of Biochemestry and Molecular Biology – Biology and Pathology Center, Lille, France; 5Neuromuscular Reference Center, Lille, France.
Background and purpose: Type 1 myotonic dystrophy (MD), associates neuromuscular, cardiac, respiratory and endocrine disorders. The aim of this study was to determine the prevalence of thyroid disorders and of any causal factors.
Methods: A retrospective single centre study was conducted, between 2000 and 2016, in 127 MD patients, diagnosed by familial genetic screening after informed consent. Clinical examination, TSH assay, 120-min glucose and insulin levels post-OGTT, number of CTG repeats and ultrasound thyroid exam were performed. Eleven patients refused the assessment. The 116 remaining were divided into 2 groups according to the presence of a goiter defined as an ultrasound volume < (usNG) or > (usG) 18 ml, whatever the presence of nodules.
Results: The whole population (61.2% female) was aged 45.1±12.2 years; the BMI was 26.2±6.5 kg/m2; at least one palpable nodule or a goiter was present in 33.6%, and hypothyroidism in 8.6%. The percentage of usG was 38.8%. Age (46.6±9.6 vs 44.1±13.6 years), BMI (28.1±7.1 vs 24.9±5.9 kg/m2), and frequency of papillary thyroid carcinoma (PTC) (17.8% vs 1.4%) were significantly higher in usG than in usNG. UsG was associated with BMI increase (P 0.017, IC 95% (−5.609 to −0.556), and hyperinsulinism (trend: P=0.069), but not with CTG repeats. 11 (24.4%) of the 45 usG patients had a total thyroidectomy. Six micro (whose one had a capsule rupture) and 3 macro-PTC (with a high-risk level for 2 of them (pT2N1aM0, pT3N0M0) were diagnosed. 80% of these 9 PTC were associated with a palpable thyroid anomaly.
Conclusion: A third of these 116 MD patients had a palpable thyroid anomaly and 7.7% a PTC vs respectively 10% and 0.1% of the general population. The risk of usG was more related to a high BMI than to CTG repeats. Clinicians should be aware of this high prevalence of PTC in MD.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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