Pubertal growth in osteogenesis imperfecta caused by pathogenic variants in COL1A1/COL1A2 |
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| Affiliation: | 1. Department of Medicine II, Saarland University Medical Center, Saarland University, Homburg, Germany;2. Laboratory of Human Genetics Bioscentia MVZ Labor Saar GMBH, Homburg, Germany;3. Radiology Center am Himmelsberg, Zweibrücken, Germany;4. Hannover Medical School (MHH), Germany;5. Laboratory of Metabolic Liver Diseases, Department of General, Transplant and Liver Surgery, Centre for Preclinical Research, Medical University of Warsaw, Poland;1. Department of Endocrinology, Odense University Hospital, Odense, Denmark;2. Institute of Health Sciences, University of Southern Denmark, Odense, Denmark;3. Department of Gynecology and Obstetrics, Lillebælt Hospital Kolding, Denmark;4. North West Thames Regional Genetics Service, London North West Health Care University NHS Trust, Harrow, UK;5. Department of Metabolism, Digestion and Reproduction, Section of Genetics and Genomics, Imperial College London, London, UK;6. Centre for Statistics in Medicine, Nuffield Department of Orthopaedics, Rheumatology, and Musculoskeletal Sciences (NDORMS), University of Oxford, Oxford, UK;7. Department of Medicine, Holbæk Hospital, Holbæk, Denmark;8. Open Data Explorative Network, University of Southern Denmark, Odense, Denmark;9. Department of Clinical Research, University of Southern Denmark, Odense, Denmark;1. Department of Biomedical Science, Cell and Matrix Research Institute, BK21 Plus KNU Biomedical Convergence Program, Clinical Trial Center, School of Medicine, Kyungpook National University and Hospital, Daegu 41944, Republic of Korea;2. Skeletal Diseases Genome Research Center, School of Medicine, Kyungpook National University, Daegu 41944, Republic of Korea |
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| Abstract: | PurposeShort stature is common in osteogenesis imperfecta (OI) and is usually severe in OI types III and IV. The characteristics of pubertal growth in OI have not been studied in detail.MethodsWe assessed 82 individuals with OI caused by pathogenic variants in COL1A1 or COL1A2 who had annual height data between 6 and 16 years of age at a minimum. Height velocity curves were fitted to each individual's height data to describe the pubertal growth spurt.ResultsCurve fitting was successful in 30 of the 33 individuals with OI type I (91%), in 23 of the 32 individuals with OI type IV (72%), and in 4 of the 17 participants with OI type III (24%). Pubertal growth spurt could be identified in most individuals with OI types I and IV, but rarely in OI type III. The timing of the pubertal growth spurt was similar between OI types I and IV in both sexes. However, height velocity was consistently higher in OI type I, leading to a widening height gap between OI types I and IV.ConclusionA pubertal growth spurt was present in most individuals with OI types I and IV, but rarely in OI type III. |
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| Keywords: | Children Osteogenesis imperfecta Pubertal growth |
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