Article
A Comprehensive Cohort Analysis Comparing Growth and GH Therapy Response in IGF1R Mutation Carriers and SGA Children.
The Journal of clinical endocrinology and metabolism - 1 Apr 2020
Göpel Eric, Rockstroh Denise, Pfäffle Heike, Schlicke Marina, Pozza Susanne Bechtold-Dalla, Gannagé-Yared Marie-Hélène, Gucev Zoran, Mohn Angelika, Harmel Eva-Maria, Volkmann Julia, Weihrauch-Blüher Susann, Gausche Ruth, Bogatsch Holger, Beger Christoph, Klammt Jürgen, Pfäffle Roland
Abstract excerpt
CONTEXT: IGF1 receptor mutations (IGF1RM) are rare; however, patients exhibit pronounced growth retardation without catch-up. Although several case reports exist, a comprehensive statistical analysis investigating growth profile and benefit of recombinant human growth hormone (rhGH) treatment is still missing. OBJECTIVE AND METHODS: Here, we compared IGF1RM carriers (n = 23) retrospectively regarding birth...
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