{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T16:24:38Z","timestamp":1790871878868,"version":"4.1.0"},"reference-count":30,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2021,9,6]],"date-time":"2021-09-06T00:00:00Z","timestamp":1630886400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Endocrinol."],"abstract":"<jats:sec><jats:title>Introduction<\/jats:title><jats:p>DICER1 syndrome encompasses a variety of benign and malignant manifestations including multinodular goitre, which is the most common manifestation among individuals carrying pathogenic <jats:italic>DICER1<\/jats:italic> variants. This is the first study estimating the prevalence of pathogenic <jats:italic>DICER1<\/jats:italic> variants in young individuals with multinodular goitre.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Danish individuals diagnosed with nodular goitre based on thyroidectomy samples in 2001-2016 with the age limit at time of operation being \u2264 25 years were offered germline <jats:italic>DICER1<\/jats:italic> gene testing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Six of 46 individuals, 13% (CI [3.3;22.7], p &amp;lt;0.05), diagnosed with nodular goitre on the basis of thyroidectomy samples under the age of 25 years had pathogenic germline variants in <jats:italic>DICER1<\/jats:italic>. 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).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>We recommend referral of patients thyroidectomised due to goitre aged &amp;lt;21 years and patients thyroidectomised due to goitre aged &amp;lt;25 years with a family history of goitre to genetic counselling. Patients of all ages thyroidectomised due to goitre, who are affected by another DICER1 manifestation should be referred to genetic counselling.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fendo.2021.727970","type":"journal-article","created":{"date-parts":[[2021,9,6]],"date-time":"2021-09-06T13:00:07Z","timestamp":1630933207000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":14,"title":["Prevalence of Pathogenic Germline DICER1 Variants in Young Individuals Thyroidectomised Due to Goitre \u2013 A National Danish Cohort"],"prefix":"10.3389","volume":"12","author":[{"given":"Mays","family":"Altaraihi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas van 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