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Extra-Endocrine Features in Infancy as Early Clues to MEN2B
Giulia Mirra1, Annalisa Deodati1,2, Armando Grossi1
1Endocrinology and Diabetes Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Pediatrics
|August 11, 2026
Summary
Early recognition of extra-endocrine features in children with Multiple Endocrine Neoplasia type 2B (MEN2B) enables timely diagnosis and thyroidectomy, improving prognosis for this rare cancer syndrome.
Area of Science:
- Pediatric Endocrinology
- Oncology
- Genetics
Background:
- Multiple Endocrine Neoplasia type 2B (MEN2B) is a rare autosomal-dominant cancer syndrome.
- Prognosis is linked to medullary thyroid carcinoma (MTC) stage at diagnosis.
- Extra-endocrine features often manifest in childhood, offering diagnostic opportunities.
Purpose of the Study:
- To highlight the spectrum of extra-endocrine manifestations in pediatric MEN2B.
- To emphasize the value of these features as early diagnostic clues.
- To promote timely genetic testing and intervention.
Main Methods:
- Retrospective review of 5 pediatric MEN2B patients.
- Analysis of genetic testing prompted by extra-endocrine symptoms.
- Correlation of clinical features with diagnosis and management.
Main Results:
- All 5 patients carried the high-risk RET M918T mutation.
- Extra-endocrine features like constipation, clubfoot, and alacrimia prompted genetic testing.
- Diagnosis and surgical management were achieved before or at endocrine disease onset.
Conclusions:
- Extra-endocrine manifestations are valuable early indicators of MEN2B.
- Prompt recognition facilitates genetic diagnosis and timely thyroidectomy.
- Early intervention can prevent metastatic MTC development.
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