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ea0030oc2.7 | Oral Communications 2 | BSPED2012

Growth, GH–IGF1 status and response to r-hGH therapy in 3-M syndrome, related to mutation status

Sakhinia Faezeh , Hanson Dan , Murray Philip , Kirk Jeremy , Cole Trevor , Skae Mars , Banerjee Indi , Padidela Raja , Patel Leena , Clayton Peter

Background: 3-M syndrome is associated with severe proportionate pre- and postnatal growth restriction, and is caused by mutations in CUL7, OBSL1, or CCDC8 genes.Aims and methods: To define baseline growth and GH–IGF1 axis status as well as response to r-hGH in relation to mutation status in 3-M children, using retrospective analysis of data from clinical notes.Results: 50 individuals (19 CUL7, 19 <...
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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