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Natural history of thyroid disease in children with pten hamartoma tumor syndrome

Journal of Clinical Endocrinology and Metabolism Dec 26, 2020

Smith JR, Liu E, Church AJ, et al. - Given the recommended screening of children with PTEN hamartoma tumor syndrome (PHTS) with thyroid ultrasound owing to their increased risk for thyroid neoplasia, researchers here examined children with PHTS for the prevalence and natural history of thyroid disease. In this retrospective cohort study (1998-2019) of 64 children with PHTS, 50 children underwent thyroid ultrasound. Twenty-two of these 50 (44%) children were diagnosed with a thyroid nodule ≥ 10mm at median (range) age 13.3 (7.0-22.9) years. This suggests a common occurrence of thyroid disease in children with PHTS. Risk of thyroid nodules was noted to be significantly linked with female gender and inversely linked with the presence of neurological findings of PHTS. Ultrasound revealed abnormal-appearing lymph nodes with echogenic foci in 20% of individuals, however, these were not linked with malignancy. Presence of autoimmune thyroid disease was noted in 10/33 (30.3%) of individuals in whom it was assessed. Overall findings support the current consensus recommendations for ultrasound screening.

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