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

Autor:	Vincenzi G; Department of Pediatrics, Endocrine Unit, IRCCS San Raffaele Scientific Institute, Milan, Italy., Petralia IT; Department of Pediatrics, Endocrine Unit, Vita-Salute San Raffaele University, IRCCS San Raffaele Scientific Institute, Milan, Italy., Abbate M; Department of Pediatrics, Endocrine Unit, Vita-Salute San Raffaele University, IRCCS San Raffaele Scientific Institute, Milan, Italy., Tarantola G; Department of Pediatrics, Endocrine Unit, Vita-Salute San Raffaele University, IRCCS San Raffaele Scientific Institute, Milan, Italy., Meroni SLC; Department of Pediatrics, Endocrine Unit, IRCCS San Raffaele Scientific Institute, Milan, Italy., Maggiore R; Department of Surgery, Endocrine Surgery Unit, IRCCS San Raffaele Scientific Institute, Milan, Italy., Mari G; Department of Surgery, Endocrine Surgery Unit, IRCCS San Raffaele Scientific Institute, Milan, Italy., Patricelli MG; Medical Genetics, IRCCS San Raffaele Scientific Institute, Milan, Italy., Schiavo Lena M; Pathology Unit, IRCCS San Raffaele Scientific Institute, Milan, Italy., Barera G; Department of Pediatrics, Endocrine Unit, IRCCS San Raffaele Scientific Institute, Milan, Italy., Vigone MC; Department of Pediatrics, Endocrine Unit, IRCCS San Raffaele Scientific Institute, Milan, Italy.
Jazyk:	angličtina
Zdroj:	Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2023 Jun 08; Vol. 14, pp. 1205785. Date of Electronic Publication: 2023 Jun 08 (Print Publication: 2023).
DOI:	10.3389/fendo.2023.1205785
Abstrakt:	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. Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. (Copyright © 2023 Vincenzi, Petralia, Abbate, Tarantola, Meroni, Maggiore, Mari, Patricelli, Schiavo Lena, Barera and Vigone.)
Databáze:	MEDLINE
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