A Case Report of Syndromic Multinodular Goitre in Adolescence: Exploring the Phenotype Overlap between Cowden and DICER1 Syndromes

Conclusions: Genetic testing was crucial in elucidating this patient ’s predisposition to the early development of neoplastic and non-neoplastic conditions. Our report also highlights the phenotypic overlap between the Cowden and DICER1 syndromes and illustrates the importance of recognising the variable phenotypic features of hereditary syndromes in order to enabl e timely implementation of appropriate care.Eur Thyroid J
Source: European Thyroid Journal - Category: Endocrinology Source Type: research