AUTHOR=Altaraihi Mays , Hansen Thomas van Overeem , Santoni-Rugiu Eric , Rossing Maria , Rasmussen Åse Krogh , Gerdes Anne-Marie , Wadt Karin 

TITLE=Prevalence of Pathogenic Germline DICER1 Variants in Young Individuals Thyroidectomised Due to Goitre – A National Danish Cohort

JOURNAL=Frontiers in Endocrinology

VOLUME=12

YEAR=2021

URL=https://www.frontiersin.org/journals/endocrinology/articles/10.3389/fendo.2021.727970

DOI=10.3389/fendo.2021.727970

ISSN=1664-2392

ABSTRACT=<sec><title>Introduction</title><p>DICER1 syndrome encompasses a variety of benign and malignant manifestations including multinodular goitre, which is the most common manifestation among individuals carrying pathogenic <italic>DICER1</italic> variants. This is the first study estimating the prevalence of pathogenic <italic>DICER1</italic> variants in young individuals with multinodular goitre.</p></sec><sec><title>Methods</title><p>Danish 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 <italic>DICER1</italic> gene testing.</p></sec><sec><title>Results</title><p>Six of 46 individuals, 13% (CI [3.3;22.7], p &lt;0.05), diagnosed with nodular goitre on the basis of thyroidectomy samples under the age of 25 years had pathogenic germline variants in <italic>DICER1</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).</p></sec><sec><title>Conclusions</title><p>We recommend referral of patients thyroidectomised due to goitre aged &lt;21 years and patients thyroidectomised due to goitre aged &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.</p></sec>