What Is the Role for Pediatric Endocrinologists in the Management of Skeletal Dysplasias?

Document Type

Journal Article

Publication Date

4-19-2024

Journal

The Journal of clinical endocrinology and metabolism

Volume

109

Issue

5

DOI

10.1210/clinem/dgad726

Keywords

growth; role; skeletal dysplasia; targeted therapy

Abstract

Children with skeletal dysplasias have not been consistently managed by pediatric endocrinologists despite the recognized expertise of these practitioners in managing genetic growth disorders. Growth-altering treatments have broadened the role of the pediatric endocrinologist to manage and sometimes become primary coordinators for genetic disorders such as Turner syndrome and Prader-Willi syndrome. We illustrate how recent advances in understanding the pathophysiology of skeletal disorders and the development of targeted treatments provide an opportunity for pediatric endocrinologists to further expand their role in managing certain skeletal dysplasias, including achondroplasia.

Department

Pediatrics

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