The safety and efficacy of radiofrequency ablation in benign pediatric thyroid disease in the US: An initial case series.

Objective: To evaluate the efficacy and safety of radiofrequency ablation (RFA) for benign nonfunctional thyroid nodules or functional lingual thyroid gland in a pediatric population. Methods: Four pediatric patients (four female; mean age 13.50 ± 4.04, range 8-17 years) with either benign thyroid nodules or mildly obstructive lingual thyroid glands were treated with RFA from 2020 to 2021 were evaluated. The inclusion criteria for RFA therapy were (i) age < 18 years; (ii) benign cytopathological results on ultrasound guided fine needle aspiration; (iii) pressure or pain symptoms caused by the thyroid nodules; (iv) dysphagia or obstruction caused by the lingual thyroid tissue; (v) follow up for >6 months with otolaryngology or endocrinology. Results: Two patients had benign non-functioning thyroid nodules and two had mildly obstructive functioning lingual thyroid glands. Mean follow up was 10.75 ± 4.79 months. Each patient underwent one RFA session with no complications. For the patients with thyroid nodules, there was >74% reduction in nodule size at last follow up with improvement in neck swelling and pain. For the patients with lingual thyroid glands, both did not have any other functional thyroid gland identified. Both had visible decrease in size of the gland as visualized transorally with improvement in dysphagia and obstructive symptoms when lying flat. Conclusion: RFA is a safe and effective option for managing benign thyroid nodules and lingual thyroid glands in a pediatric patient population. Level of evidence: 4.

Use of Neoadjuvant Vandetanib in Aggressive Pediatric Medullary Thyroid Carcinoma.

Novel use of vandetanib in a child with aggressive MTC with prolonged response to treatment.

Parathyroid Autofluorescence in Pediatric Thyroid Surgery: Experience With False Positive and False Negative Results.

Devices for near-infrared light stimulation of autofluorescence (NIRAF) allow for intraoperative identification of parathyroid glands with high sensitivity in adults. However, their performance in the pediatric population is unknown. In this case series with chart review at a tertiary academic children's hospital, we investigated pediatric patients undergoing thyroid surgery and concurrent use of a probe-based NIRAF device. Thirteen patients (ages 6-18 years) underwent thyroid and/or neck dissection procedures, and 2 patients had revision procedures for a total of 15 cases with the NIRAF device. Eight cases had NIRAF values that matched surgeon opinion of parathyroid tissue or histology when available. Six cases had false positive NIRAF readings (40.0%) and 1 case had false negative readings (6.7%). Compared with surgeon opinion or histology, the NIRAF device confirmed 26 of 34 parathyroid gland candidates (76.5%). These devices need further investigation in pediatric patients, whose tissues may have different autofluorescence characteristics.

Sociodemographic Disparities in the Diagnostic Management of Pediatric Thyroid Nodules.

Importance: Thyroid cancer is the most common pediatric endocrine malignant neoplasm. Disparities in the workup of thyroid nodules may be significantly associated with thyroid cancer outcomes. Objective: To determine the association of sociodemographic factors with the odds of receiving a biopsy, timeliness of the procedure, and risk of nodule malignancy. Design, Setting, and Participants: This was a retrospective cross-sectional study using insurance claims data from the Optum Clinformatics Data Mart database. The study cohort comprised pediatric patients diagnosed with single thyroid nodules between 2003 and 2020. Data analysis was performed from January 1, 2003, to June 30, 2020. Main Outcomes and Measures: Multivariable logistic regression models were used to identify demographic variables associated with biopsy and nodule malignant neoplasm. A multivariable linear regression model was used to assess the time between thyroid nodule diagnosis and biopsy. Results: Of 11 643 children (median [IQR] age at diagnosis or procedure, 15 [12-17] years; 8549 [73.2%] were female and 3126 [26.8%] were male) diagnosed with single thyroid nodules, 2117 (18.2%) received a biopsy. Among the patients who received a biopsy, 304 (14.4%) were found to have a malignant nodule. Greater parental education was associated with a shorter diagnosis-to-biopsy interval (mean difference, -7.24 days; 95% CI, -13.75 to -0.73). Older age at nodule diagnosis (odds ratio [OR], 1.11; 95% CI, 1.09-1.13) and female gender (OR, 1.25; 95% CI, 1.11-1.40) were associated with increased odds of receiving a biopsy, while Black/African American (OR, 0.80; 95% CI, 0.65-0.99) and Hispanic (OR, 0.84; 95% CI, 0.72-0.99) patients had lower odds of receiving a biopsy compared with White patients. Finally, female gender (OR, 1.08; 95% CI, 0.80-1.47) was not associated with lower odds of nodule malignant neoplasm. Conclusions and Relevance: Findings of this cross-sectional study highlight disparities in the diagnostic management of pediatric thyroid nodules. These results call for future work to ensure equitable access to thyroid care for all children.

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis in three siblings having the same genetic lesion but different clinical presentations.

BACKGROUND: This article summarizes the varying clinical manifestations of three siblings with familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) caused by the same genetic lesion. METHODS: The medical records of three siblings with FHHNC (one girl and two boys, aged 6 to 12 years) were reviewed and the clinical manifestations and treatment of their disease were described. RESULTS: Despite varying phenotypes, each sibling had the same genetic lesion-a novel homozygous mutation in CLDN16 (c.211A>G, M71V). CONCLUSION: Although FHHNC is a rare disorder, this report is significant for the following reasons: (i) it describes a novel CLDN16 mutation causing FHHNC, adding to the literature of FHHNC-causing CLDN16 mutations; (ii) it suggests that genes other than CLDN16 or epigenetic factors are involved in the clinical spectrum of FHHNC; and (iii) it reinforces the variability of disease manifestation and genotype-phenotype correlations.