Response to Growth Hormone Treatment in a Patient with Insulin-Like Growth Factor 1 Receptor Deletion | Zendy

Ranim Mahmoud | Zendy; Ajanta Naidu | Zendy; Hiba Risheg | Zendy; Virginia Kimonis | Zendy

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Response to Growth Hormone Treatment in a Patient with Insulin-Like Growth Factor 1 Receptor Deletion

Author(s) -

Ranim Mahmoud,

Ajanta Naidu,

Hiba Risheg,

Virginia Kimonis

Publication year - 2017

Publication title -

journal of clinical research in pediatric endocrinology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.566

H-Index - 35

eISSN - 1308-5735

pISSN - 1308-5727

DOI - 10.4274/jcrpe.4456

Subject(s) - insulin like growth factor 1 receptor , short stature , medicine , microcephaly , dwarfism , growth hormone treatment , insulin like growth factor , endocrinology , gene duplication , growth hormone , growth factor , receptor , insulin , gene , genetics , hormone , pediatrics , biology

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.

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