Bibliographic Details
| 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 |
| Authors: |
Gaia Vincenzi, Ilenia Teresa Petralia, Marco Abbate, Giulia Tarantola, Silvia Laura Carla Meroni, Riccardo Maggiore, Gilberto Mari, Maria Grazia Patricelli, Marco Schiavo Lena, Graziano Barera, Maria Cristina Vigone |
| Source: |
Frontiers in Endocrinology, Vol 14 (2023) |
| Publisher Information: |
Frontiers Media S.A., 2023. |
| Publication Year: |
2023 |
| Collection: |
LCC:Diseases of the endocrine glands. Clinical endocrinology |
| Subject Terms: |
case report, PTEN hamartoma tumor syndrome, congenital hypothyroidism, TPO, goiter, Diseases of the endocrine glands. Clinical endocrinology, RC648-665 |
| More Details: |
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. |
| Document Type: |
article |
| File Description: |
electronic resource |
| Language: |
English |
| ISSN: |
1664-2392 |
| Relation: |
https://www.frontiersin.org/articles/10.3389/fendo.2023.1205785/full; https://doaj.org/toc/1664-2392 |
| DOI: |
10.3389/fendo.2023.1205785 |
| Access URL: |
https://doaj.org/article/c8eab1cbf4384dfeb70c5c05a4f045d2 |
| Accession Number: |
edsdoj.8eab1cbf4384dfeb70c5c05a4f045d2 |
| Database: |
Directory of Open Access Journals |
