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Published on: February 3, 2023
[Medullary thyroid carcinoma in a 10-month-old child with multiple endocrine neoplasia 2B]
Jes Sloth Mathiesen1, Helle Døssing, Lars Bender
1Niels Bohrs Allé 23, 2017, 5230 Odense M.
Insights
Early genetic testing and prophylactic thyroidectomy are crucial for infants at risk of multiple endocrine neoplasia type 2B (MEN2B). A ten-month-old diagnosed with MEN2B underwent successful surgery, confirming the need for timely intervention.
Area of Science:
- Pediatric Endocrinology
- Surgical Oncology
- Clinical Genetics
Background:
- Multiple Endocrine Neoplasia type 2B (MEN2B) is a rare genetic disorder.
- MEN2B significantly increases the risk of medullary thyroid carcinoma (MTC).
- Early diagnosis and intervention are recommended by the American Thyroid Association for MEN2B patients.
Observation:
- A ten-month-old female infant at risk for MEN2B underwent genetic testing.
- The infant was found to have a RET-mutation, confirming MEN2B.
- Prophylactic thyroidectomy was performed on the infant.
Findings:
- Histopathological examination of the surgical specimen revealed medullary thyroid carcinoma.
- The early detection and surgical removal were successful in this case.
Implications:
- This case highlights the critical importance of early genetic screening in infants with MEN2B risk.
- Timely prophylactic thyroidectomy is essential for preventing or managing MTC in MEN2B patients.
- Adherence to established guidelines for early diagnosis and surgical management can improve patient outcomes.
Abstract:
In infants at risk of multiple endocrine neoplasia type 2B (MEN2B) the American Thyroid Association recommends genetic testing as soon as possible after birth and that thyroidectomy should be performed in MEN2B RET-mutation positive individuals as soon as possible and if possible within the first year of life. We present a ten-month-old girl with MEN2B who had prophylactic thyroidectomy. The surgical specimen showed medullary thyroid carcinoma. This case emphasizes the need for early diagnosis and prophylactic thyroidectomy in MEN2B patients.
