Response to Growth Hormone Treatment in a Patient with Insulin-Like Growth Factor 1 Receptor Deletion
Journal Title: Journal of Clinical Research in Pediatric Endocrinology - Year 2017, Vol 9, Issue 4
Abstract
We report a six-year-old boy who presented with short stature, microcephaly, dysmorphic features, and developmental delay and who was identified with a terminal deletion of 15q26.2q26.3 containing the insulin-like growth factor receptor (IGF1R) gene in addition to a terminal duplication of the 4q35.1q35.2 region. We compare our case with other reports of deletions and mutations affecting the IGF1R gene associated with pre-and postnatal growth restriction. We report the dramatic response to growth hormone therapy in this patient which highlights the importance of identifying patients with IGF1R deletion and treating them early.
Authors and Affiliations
Ranim Mahmoud, Ajanta Naidu, Hiba Risheg, Virginia Kimonis
Keywords
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- EP ID EP253080
- DOI 10.4274/jcrpe.4456
- Views 202
- Downloads 0
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