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

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 pa...

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Bibliographic Details
Published in:Frontiers in endocrinology (Lausanne) 2023-06, Vol.14, p.1205785
Main Authors: 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
Format: Article
Language:English
Subjects:
case report
Child
congenital hypothyroidism
Congenital Hypothyroidism - complications
Congenital Hypothyroidism - genetics
Endocrinology
Female
goiter
Goiter - complications
Goiter - genetics
Goiter - surgery
Hamartoma Syndrome, Multiple - complications
Hamartoma Syndrome, Multiple - genetics
Hamartoma Syndrome, Multiple - pathology
Humans
Mutation
PTEN hamartoma tumor syndrome
PTEN Phosphohydrolase - genetics
Thyroid Neoplasms
TPO
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Summary: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. To our knowledge, this is the first case that describes the possible synergic role of coexisting mutation of both TPO and PTEN in the development of multinodular goiter underlining the importance of a tailored surveillance program in these patients, especially during childhood.
ISSN:1664-2392
1664-2392
DOI:10.3389/fendo.2023.1205785