Diagnostics (Apr 2021)

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

  • Agnieszka Lecka-Ambroziak,
  • Marta Wysocka-Mincewicz,
  • Katarzyna Doleżal-Ołtarzewska,
  • Agata Zygmunt-Górska,
  • Teresa Żak,
  • Anna Noczyńska,
  • Dorota Birkholz-Walerzak,
  • Renata Stawerska,
  • Maciej Hilczer,
  • Monika Obara-Moszyńska,
  • Barbara Rabska-Pietrzak,
  • Elżbieta Gołębiowska,
  • Adam Dudek,
  • Elżbieta Petriczko,
  • Mieczysław Szalecki,
  • on behalf of the Polish Coordination Group for rhGH Treatment

DOI
https://doi.org/10.3390/diagnostics11050798
Journal volume & issue
Vol. 11, no. 5
p. 798

Abstract

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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.

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