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ey0016.4-4 | Important for Clinical Practice | ESPEYB16

4.4. Phenotypic features and response to growth hormone treatment of patients with a molecular defect of the IGF-1 receptor

MJE Walenkamp , JML Robers , JM Wit , GRJ Zandwijken , HA van Duyvenvoorde , W Oostdijk , ACS Hokken-Koelega , SG Kant , M Losekoot

To read the full abstract: J Clin Endocrinol Metab. 2019; 104(8): 31573171.The IGF receptor gene IGF1R is located at 15q26.3 locus and encodes for a tyrosine kinase receptor which mediates the IGF-I biological actions. The key role of IGF-IR in growth and development was proved in IGF1R null mice that had severely impaired prenatal growth and invariably died at birth ...

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ey0021.4-6 | Important for Clinical Practice | ESPEYB21

4.6. Clinical characteristics of pathogenic ACAN variants and 3-year response to growth hormone treatment: real-world data

JS Renes , AMJ Reedijk , M Losekoot , SG Kant , M Van der Steen , DCM Van der Kaay , ACS Hokken-Koelega , HA Van Duyvenvoorde , C de Bruin

Brief Summary: This study describes the clinical characteristics of pathogenic variants in the ACAN gene and the response to rhGH treatment over three years in children with a heterozygous ACAN variant. The results indicate that rhGH therapy may be considered to reduce the height deficit in these patients, particularly in prepubertal children with ACAN deficiency.Aggrecan is the major proteoglycan of the cartilage growth plate. Homozygo...

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ESPE Yearbook of Paediatric Endocrinology

4.4. Phenotypic features and response to growth hormone treatment of patients with a molecular defect of the IGF-1 receptor

4.6. Clinical characteristics of pathogenic ACAN variants and 3-year response to growth hormone treatment: real-world data

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