%0 Journal Article
%T Considerations for total thyroidectomy in an adolescent with PTEN mutation
%A Ioanna D. Athanassaki
%A Mary L. Brandt
%A Mustafa Tosur
%A Surya P. Rednam
%J Archive of "Therapeutic Advances in Endocrinology and Metabolism".
%D 2018
%R 10.1177/2042018818784517
%X Individuals with PTEN Hamartoma Tumor Syndrome (PHTS) are at greatly increased risk for developing well-differentiated thyroid cancer. Specific circumstances in which total thyroidectomies should be considered have not been defined. A 14-year-old macrocephalic female with history of developmental delay and lipoma over her left flank presented with neck swelling and was found have multinodular goiter and auto-immune thyroiditis. Asymptomatic tracheal narrowing was also detected on her initial diagnostic imaging. Later on, she developed positional dyspnea during sleep. Genetic testing revealed a heterozygous pathogenic variant in the PTEN gene (c.463T>A). A total thyroidectomy was performed. In addition to addressing the symptomology in our case, a total thyroidectomy also fortuitously eliminated the thyroid cancer risk. This case spurred us on further to identify specific clinical scenarios where total thyroidectomy may be considered as a true prophylactic measure to manage thyroid cancer risk in PHTS patients
%K Prophylactic
%K PTEN mutation
%K thyroid cancer
%K total thyroidectomy
%U https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6116769/