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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.

diagnostics

Correlation of Genotype and Perinatal Period, Time of Diagnosis and Anthropometric Data before Commencement of Recombinant Human Growth Hormone Treatment in Polish Patients with Prader–Willi Syndrome