Considerations for total thyroidectomy in an adolescent with mutation
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 de...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
SAGE Publishing
2018-09-01
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| Series: | Therapeutic Advances in Endocrinology and Metabolism |
| Online Access: | https://doi.org/10.1177/2042018818784517 |
| Summary: | 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. |
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| ISSN: | 2042-0188 2042-0196 |