Frontiers in Endocrinology (Jun 2023)

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

  • 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

DOI
https://doi.org/10.3389/fendo.2023.1205785
Journal volume & issue
Vol. 14

Abstract

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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.

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