Abstract

Abstract PTEN hamartoma tumor syndrome (PHTS) is a rare autosomal dominant syndrome associated with the development of several benign and malignant neoplasms. A 7-year-old boy presented to an otolaryngology office with a left neck mass that was ultimately diagnosed as follicular thyroid carcinoma. Due to the rarity of this tumor type in a child and his family history, he was referred to the genetics department. This resulted in a diagnosis of a disorder included in the PTEN hamartoma tumor syndrome, and the patient and his extended family will benefit from increased surveillance throughout their lifetimes. In addition, we advocate for early thyroid surveillance in young children diagnosed with PHTS.

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