| Autor: |
Lecka-Ambroziak A; Department of Endocrinology and Diabetology, The Children's Memorial Health Institute, 04-730 Warsaw, Poland., Wysocka-Mincewicz M; Department of Endocrinology and Diabetology, The Children's Memorial Health Institute, 04-730 Warsaw, Poland., Doleżal-Ołtarzewska K; Department of Paediatric and Adolescent Endocrinology, University Children's Hospital, 30-663 Cracow, Poland., Zygmunt-Górska A; Department of Paediatric and Adolescent Endocrinology, University Children's Hospital, 30-663 Cracow, Poland., Żak T; Department of Endocrinology and Diabetology of Children and Adolescents, Wroclaw Medical University, 50-368 Wroclaw, Poland., Noczyńska A; Department of Endocrinology and Diabetology of Children and Adolescents, Wroclaw Medical University, 50-368 Wroclaw, Poland., Birkholz-Walerzak D; Department of Paediatrics, Diabetology and Endocrinology, Medical University of Gdansk, 80-952 Gdansk, Poland., Stawerska R; Department of Endocrinology and Metabolic Diseases, Polish Mother's Memorial Hospital-Research Institute, 93-338 Lodz, Poland., Hilczer M; Department of Endocrinology and Metabolic Diseases, Polish Mother's Memorial Hospital-Research Institute, 93-338 Lodz, Poland., Obara-Moszyńska M; Department of Paediatric Endocrinology and Rheumatology, Institute of Paediatrics, Poznan University of Medical Sciences, 60-572 Poznan, Poland., Rabska-Pietrzak B; Department of Paediatric Endocrinology and Rheumatology, Institute of Paediatrics, Poznan University of Medical Sciences, 60-572 Poznan, Poland., Gołębiowska E; II Clinic of Paediatrics, Endocrinology and Paediatric Diabetology, Clinical Regional Hospital No 2, 35-301 Rzeszow, Poland., Dudek A; II Clinic of Paediatrics, Endocrinology and Paediatric Diabetology, Clinical Regional Hospital No 2, 35-301 Rzeszow, Poland., Petriczko E; Department of Paediatrics, Endocrinology, Diabetology, Metabolic Disorders and Cardiology of Developmental Age, Pomeranian Medical University, 71-242 Szczecin, Poland., Szalecki M; Department of Endocrinology and Diabetology, The Children's Memorial Health Institute, 04-730 Warsaw, Poland.; Collegium Medicum, Jan Kochanowski University, 25-317 Kielce, Poland., On Behalf Of The Polish Coordination Group For rhGH Treatment |
| Abstrakt: |
Genotype-phenotype correlation in patients with Prader-Willi syndrome (PWS) has still not been fully described. We retrospectively analysed data of 147 patients and compared groups according to genetic diagnosis: paternal deletion of chromosome 15q11-q13 (DEL 15, n = 81), maternal uniparental disomy (UPD 15, n = 10), excluded DEL 15 (UPD 15 or imprinting centre defect, UPD/ID, n = 30). Group DEL 15 had an earlier genetic diagnosis and recombinant human growth hormone (rhGH) start ( p = 0.00), with a higher insulin-like growth factor 1 (IGF1) level compared to group UPD/ID ( p = 0.04). Among perinatal characteristics, there was only a tendency towards lower birth weight SDS in group UPD 15 ( p = 0.06). We also compared data at rhGH start in relation to genetic diagnosis age-group 1: age ≤9 months, group 2: >9 months ≤ 2 years, group 3: > 2 years. Group 1 had the earliest rhGH start ( p = 0.00), with lower body mass index (BMI) SDS ( p = 0.00) and a tendency towards a higher IGF1 level compared to group 3 ( p = 0.05). Genetic background in children with PWS is related to time of diagnosis and rhGH start, with a difference in IGF1 level before the therapy, but it seems to have little impact on perinatal data. Early genetic diagnosis leads to early rhGH treatment with favourable lower BMI SDS. |
