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Fracture Risk in Pediatric Patients with MEN2B

J Clin Endocrinol Metab. 2022 Sep 3:dgac500. doi: 10.1210/clinem/dgac500. Online ahead of print.


OBJECTIVE: To better delineate fracture risk in patients with Multiple Endocrine Neoplasia Type 2B (MEN2B).

STUDY DESIGN: Case series with chart review.

SETTING: National Institutes of Health, Pediatric Oncology Branch.

SUBJECTS AND METHODS: Forty-eight patients with MEN2B were identified. Age range 5-36 years, median of 19; 24/48 (50%) patients were female. Medical records, demographic information, available imaging, and laboratory results were reviewed. History up to the age of 19 was included in the statistical analyses.

RESULTS: Of 48 patients with MEN2B, 20 patients experienced at least one fracture. The majority (n = 18) experienced their first fracture at or before the age of 19. The observed frequency of fracture occurrence throughout childhood (0-19 years) was 38%, with very little difference between males and females. This frequency is higher than the 9.47 to 36.1 fractures per 1000 persons per year that has been reported in healthy pediatric cohorts in the United States. Less common sites of fracture including vertebral compression fracture and pelvic fractures were observed in patients with MEN2B.

CONCLUSION: In this group of patients with MEN2B, there was an increased overall risk of fracture compared to general pediatric cohorts in the United States. Less common sites of fracture were also observed. This suggests a possible impact of an activating RET mutation on bone physiology and warrants further investigation.

PMID:36056624 | DOI:10.1210/clinem/dgac500

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