Abstract

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.

Highlights

  • Prader–Willi syndrome (PWS) is a rare disease with an estimated prevalence of 1 in15,000 to 1 in 30,000

  • We investigated the patients’ anthropometric and insulin-like growth factor 1 (IGF1) values at the time of recombinant human growth hormone (rhGH) start in relation to the age of genetic diagnosis

  • We presented new data regarding the age of diagnosis and the age of rhGH start in different PWS genetic subtypes

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Summary

Introduction

Prader–Willi syndrome (PWS) is a rare disease with an estimated prevalence of 1 in15,000 to 1 in 30,000. PWS is a first recognised human genetic imprinting disorder and results from a lack of paternally inherited genes on chromosome 15q11-q13, which can be caused by paternal deletion Among the imprinted genes are: SNURF-SNRPN (SNRPN upstream reading framesmall nuclear ribonucleoprotein polypeptide N), MKRN3 The main clinical features of PWS are mostly age-dependent and consist, in the first months of life, of marked hypotonia, global psychomotor delay, and moderate to severe difficulties in feeding with failure to thrive. This period is usually followed by a lack of satiety and obesity developing from early childhood that lead, if untreated, to morbid obesity. There are studies confirming frequent premature adrenarche which does not influence the central puberty course or recombinant human growth hormone (rhGH)

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