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The Variable Presentation and Diagnostic Pitfalls of Autonomous Thyroid Nodules in Pediatrics: A Single-Center Case
Introduction:
Thyroid nodules are less common and more likely to be malignant in children than in adults. Data on pediatric autonomous thyroid nodules (ATN) are scarce.
Methods:
Retrospective descriptive study. Twelve-year single-center case series of 12 patients (8 females) diagnosed with ATN at median age 15.7 years (3.6-17.3). A thirteenth patient with papillary thyroid carcinoma and hyperthyroidism was reported and described in the study but their data were not included in the descriptive statistics due to uncertainty regarding the autonomous nature of their nodule.
Results:
Over half the patients presented with a goiter and/or palpable nodule (72.7%). Symptoms of hyperthyroidism were present in 75%. Laboratory findings included suppressed serum TSH (100%). Free T4 was either normal (92.7%) or elevated (8.3%) with elevated total T3 (33.3%). Positive thyroperoxidase or thyroglobulin auto-antibodies were reported in three (25%) and one (8.3%) patients respectively. Two patients (16.7%) had TSH receptor antibodies at baseline. On ultrasound, thyroid nodule sizes were 2-4 cm (75%) or above 4 cm (25%). TIRADS scores were: 1 (8.3%), 2 (33.3%), 3 (8.3%), 4 (25%) or 5 (25%). Findings typical of ATN were detected in 10 of 11 patients (90.9%) on scintigraphy. Cytopathology was available on 8 nodules from 5 patients. Bethesda classifications were: II (n=2), III (n=3), IV (n=1), and V (n=1). Molecular analysis showed activating TSH receptor mutation in three of five tested patients. Ten patients completed surgery: total thyroidectomy (n=1) or lobectomy (n=9). Pathology was consistent with benign nodules in 9 cases. In one, the ATN was benign, but pathology detected incidental thyroid microcarcinoma in the same lobe.
Conclusions:
The presentation of children with ATN is highly variable. Clinical signs of hyperthyroidism may not be present initially and the interpretation of laboratory and imaging data could be complicated by confounding factors . Multicenter studies are needed to establish the frequency of malignancy in pediatric ATN and better understand its pathophysiology.
