ISSN 1662-4009 (online)

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Yearbook of Paediatric Endocrinology 2021

ey0018.4-13 | New Paradigms | ESPEYB18

4.13 A Genome-wide pharmacogenetic study of growth hormone responsiveness

A Dauber , Y Meng , L Audi , S Vedantam , B Weaver , A Carrascosa , K Albertsson-Wikland , M Ranke , A Jorge , J Cara , MP Wajnrajch , A Lindberg , C Camacho-Hübner , JN Hirschhorn

J Clin Endocrinol Metab. 2020;105:3203–3214. doi: 10.1210/clinem/dgaa443. PMID: 32652002The authors performed a large genome-wide association study (GWAS) to assess the role of common genetic variants in the response to GH therapy. A total of 614 children treated with GH were included: 276 with idiopathic GHD, 297 with ISS, and 41 born SGA. The findings implicate some novel mechanisms...

ey0018.4-14 | New Paradigms | ESPEYB18

4.14. Familial short stature-A novel phenotype of growth plate collagenopathies

Plachy Lukas , Dusatkova Petra , Maratova Klara , Petruzelkova Lenka , Elblova Lenka , Kolouskova Stanislava , Snajderova Marta , Obermannova Barbora , Zemkova Dana , Sumnik Zdenek , Lebl Jan , Pruhova Stepanka

J Clin Endocrinol Metab. 2021;106:1742–1749. doi: 10.1210/clinem/dgab084. PMID: 33570564This study aimed to assess the frequency of genetic collagenopathies in children with familial short stature (FSS), describing the phenotype and reporting the response to rhGH treatment after 1 and 3 years and at adult height.Collagen types II, IX, X, and XI are synthesized by...