A case report of a mother and her children with familial medullary thyroid carcinoma (MTC) was presented as an ePoster at the 2023 International Meeting of Pediatric Endocrinology (IMPE 2023).

A 32-year-old mother was diagnosed with metastatic MTC after progressive weakness of her extremities, weight loss, and dysarthria. She was found to have a TGC-TGG mutation in codon 634 of the RET proto-oncogene. Genetic testing revealed that 2 of her 3 children also had heterozygous mutations in codon 634.

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“Medullary thyroid carcinoma includes 1% to 2% of all thyroid cancers, up to 20% of cases can be predicted due to autosomal dominant germline mutations, its early detection is considered a challenge due to its rarity, however complete surgical resection is considered the only definitive treatment,” the authors wrote.

The first child, an 11-year-old boy, had lost 3 kg in the previous 12 months. He also had pain and paresthesia of his extremities with diaphoresis. Ultrasonic investigation revealed a 9.9×6.4-mm lesion in the left lobe of his thyroid.

The lesion had poorly defined borders and contours with a region of higher echogenicity inside. His presurgical calcitonin level was 303 pg/mL. Total thyroidectomy was performed with the only complication being pneumothorax. Histopathology revealed the mass to be classic infiltrating MTC with metastasis into the juxta-thyroid lymph node in the lower pole of the right lobe.

The other child, a 5-year-old boy, was asymptomatic with no alterations found on ultrasound. He underwent prophylactic total thyroidectomy without complications. Histopathology of the thyroid revealed no malignancy. His presurgical calcitonin level was 12 pg/mL.

The older patient had a parathyroid hormone (PTH) level of 28.4 pg/mL at 2 follow-up visits after surgery. The younger boy had low levels of PTH initially (3.56 pg/mL) on the day after surgery. Subsequent visits roughly 2 months later showed elevated PTH levels (727 pg/mL and 654 pg/mL).


Torres Vallejo A, Elesva Guadarrama Zenteno S, Francisca Altamirano Bustamante N, de la Luz Ruiz Reyes M, Calzada León R. Familial medullary thyroid carcinoma, case report. ePoster presented at: 11th International Meeting of Pediatric Endocrinology (IMPE 2023); March 4-7, 2023; Buenos Aires, Argentina.