Prevalence of Pathogenic Germline DICER1 Variants in Young Individuals Thyroidectomised Due to Goitre – A National Danish Cohort
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IntroductionDICER1 syndrome encompasses a variety of benign and malignant manifestations including multinodular goitre, which is the most common manifestation among individuals carrying pathogenic DICER1 variants. This is the first study estimating the prevalence of pathogenic DICER1 variants in young individuals with multinodular goitre.MethodsDanish individuals diagnosed with nodular goitre based on thyroidectomy samples in 2001-2016 with the age limit at time of operation being ≤ 25 years were offered germline DICER1 gene testing.ResultsSix of 46 individuals, 13% (CI [3.3;22.7], p DICER1. They were found in different pathoanatomical nodular goitre cohorts i.e. nodular goitre (n=2), colloid nodular goitre (n=3) and hyperplastic nodular goitre (n=1).ConclusionsWe recommend referral of patients thyroidectomised due to goitre aged
Originalsprog | Engelsk |
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Artikelnummer | 727970 |
Tidsskrift | Frontiers in Endocrinology |
Vol/bind | 12 |
Antal sider | 7 |
ISSN | 1664-2392 |
DOI | |
Status | Udgivet - 2021 |
ID: 290128318