Severe primary IGF1 deficiency diagnosedby a standardized IGF1/ IGFBP3 generation test:The Belgian experience

Sofie Ryckx, Christine Derycke, Ellen Anckaert, Veronique Beauloye, Dominique Beckers, Cecile Brachet, Marieke den Brinker, Kathleen De Waele, Hilde Dotremont, Emese Boros, Daniel Klink, Marie-Christine Lebrethon, Philippe A Lysy, Thierry Mouraux, Anne-Simone Parent, Anne Rochtus, Saskia Van der Straaten, Jean De Schepper

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RFC10.2Background/Aim: Over the past 6 years, the IGF1/ IGFBP3generation test (IGFGT) has been used in Belgium in a standardized form to identify children with severe primary IGF1 deficiency(SPIGFD). In this study, the discordance of the IGF1 and IGFBP3responses during an IGFGT and the prevalence of SPIGFD wereanalyzed in a cohort of children with short stature (height SDS <- 2) and presenting with low (below lower reference limit) serumIGF1 level and normal stimulated GH peak (> 7 µg/L).Methods: In total, 56 (35 male) children aged between 1.3 and14.8 years (median 7.5) underwent an IGFGT. Only 34 IGFGT were analyzed, because of non-persisting low serum IGF1 valuesand/or an underlying chronic disease in 22 children. Morningserum IGF1 and IGFBP3 concentrations were measured by theIDS-iSYS assay before and after 7 daily injections of GH (0.05 mg/kg bodyweight somatotropin) in the evening. An abnormal IGF1/IGFBP3 response was defined by a stimulated value remainingbelow gender and age specific basal reference limits. SPIGFD wasdefined by a low basal IGF1 together with a IGF1 response < 15µg/L and a IGFBP3 response < 400 µg/L during the IGFGT.Results: In 16/34 (47%) children, a normal basal serum IGF1by the IDS-iSYS assay was measured and paralleled with a normalserum IGFBP3 in 13 cases. Twelve (67 %) of the 18 children witha confirmed low basal IGF1 had a low serum IGFBP3, 6 (33 %) hadan abnormal IGF1 response and the same 6 cases had an abnormalIGFBP3 response, whereas 6 had a IGF1 response < 15 µg/L, 5 hada IGFBP3 response < 400 µg/L and 4 had both responses below thedefined limits. Genetic studies in 3 of these 4 cases confirmed apathogenic heterogenous GHR gene mutation (c.899 dup p. andc.876G>T) in 2 cases and a pathogenic PTPN11 mutation inanother case.Conclusion: In short children with persistent low IGF1 valuesand a normal stimulated GH peak, a low IGF1 status could be confirmed in only half of the cases using the IDS-iSYS assay. In thosechildren, a 100 % concordance between low stimulated IGF1 andlow stimulated IGFBP3 levels was observed during a standardized(high dose and prolonged up to 7 days) IGF1/ IGFBP3 generationtest, permitting finally the biochemical diagnosis of a severe primary IGF1 deficiency in 12 %.
Originele taal-2English
Pagina's (van-tot)94-95
Aantal pagina's2
TijdschriftHormone Research in Paediatrics
Nummer van het tijdschriftsuppl 2
StatusPublished - sep 2022
Evenement60th Annual Meeting of the European Society for Paediatric Endocrinology (ESPE) - Rome, Rome, Italy
Duur: 15 sep 202217 sep 2022


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