AUTHOR=Vincenzi Gaia , Petralia Ilenia Teresa , Abbate Marco , Tarantola Giulia , Meroni Silvia Laura Carla , Maggiore Riccardo , Mari Gilberto , Patricelli Maria Grazia , Schiavo Lena Marco , Barera Graziano , Vigone Maria Cristina 

TITLE=Case Report - Multinodular goiter in a patient with Congenital Hypothyroidism and Bannayan-Riley-Ruvalcaba syndrome: the possible synergic role of TPO and PTEN mutation

JOURNAL=Frontiers in Endocrinology

VOLUME=Volume 14 - 2023

YEAR=2023

URL=https://www.frontiersin.org/journals/endocrinology/articles/10.3389/fendo.2023.1205785

DOI=10.3389/fendo.2023.1205785

ISSN=1664-2392

ABSTRACT=We report the case of a paediatric female patient affected by Bannayan-Riley-Ruvalcaba syndrome (BRRS) and congenital hypothyroidism (CH) with homozygous mutation of the TPO gene. She underwent total thyroidectomy at the age of seven years because of the development of a multinodular goiter. BRRS patients present an increased risk of benign and malignant thyroid disease since childhood because of inactivating mutation of PTEN, an onco-suppressor gene. Instead, homozygous mutations in the TPO gene can be associated with severe forms of hypothyroidism with goiter; previous studies have described cases of follicular and papillary thyroid cancer in CH patients with TPO mutation despite a perfectly controlled thyroid function with Levothyroxine therapy. This case provides a challenging scenario: mutation of TPO and PTEN may have had a synergic role in the development of multinodular goiter underlining the importance of a tailored surveillance program in these patients, especially during childhood.