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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

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...

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Autores principales: Lecka-Ambroziak, Agnieszka, Wysocka-Mincewicz, Marta, Doleżal-Ołtarzewska, Katarzyna, Zygmunt-Górska, Agata, Żak, Teresa, Noczyńska, Anna, Birkholz-Walerzak, Dorota, Stawerska, Renata, Hilczer, Maciej, Obara-Moszyńska, Monika, Rabska-Pietrzak, Barbara, Gołębiowska, Elżbieta, Dudek, Adam, Petriczko, Elżbieta, Szalecki, Mieczysław
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8145028/
https://www.ncbi.nlm.nih.gov/pubmed/33925106
http://dx.doi.org/10.3390/diagnostics11050798
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author Lecka-Ambroziak, Agnieszka
Wysocka-Mincewicz, Marta
Doleżal-Ołtarzewska, Katarzyna
Zygmunt-Górska, Agata
Żak, Teresa
Noczyńska, Anna
Birkholz-Walerzak, Dorota
Stawerska, Renata
Hilczer, Maciej
Obara-Moszyńska, Monika
Rabska-Pietrzak, Barbara
Gołębiowska, Elżbieta
Dudek, Adam
Petriczko, Elżbieta
Szalecki, Mieczysław
author_facet Lecka-Ambroziak, Agnieszka
Wysocka-Mincewicz, Marta
Doleżal-Ołtarzewska, Katarzyna
Zygmunt-Górska, Agata
Żak, Teresa
Noczyńska, Anna
Birkholz-Walerzak, Dorota
Stawerska, Renata
Hilczer, Maciej
Obara-Moszyńska, Monika
Rabska-Pietrzak, Barbara
Gołębiowska, Elżbieta
Dudek, Adam
Petriczko, Elżbieta
Szalecki, Mieczysław
author_sort Lecka-Ambroziak, Agnieszka
collection PubMed
description 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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spelling pubmed-81450282021-05-26 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 Lecka-Ambroziak, Agnieszka Wysocka-Mincewicz, Marta Doleżal-Ołtarzewska, Katarzyna Zygmunt-Górska, Agata Żak, Teresa Noczyńska, Anna Birkholz-Walerzak, Dorota Stawerska, Renata Hilczer, Maciej Obara-Moszyńska, Monika Rabska-Pietrzak, Barbara Gołębiowska, Elżbieta Dudek, Adam Petriczko, Elżbieta Szalecki, Mieczysław Diagnostics (Basel) Article 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. MDPI 2021-04-28 /pmc/articles/PMC8145028/ /pubmed/33925106 http://dx.doi.org/10.3390/diagnostics11050798 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Lecka-Ambroziak, Agnieszka
Wysocka-Mincewicz, Marta
Doleżal-Ołtarzewska, Katarzyna
Zygmunt-Górska, Agata
Żak, Teresa
Noczyńska, Anna
Birkholz-Walerzak, Dorota
Stawerska, Renata
Hilczer, Maciej
Obara-Moszyńska, Monika
Rabska-Pietrzak, Barbara
Gołębiowska, Elżbieta
Dudek, Adam
Petriczko, Elżbieta
Szalecki, Mieczysław
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
title 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
title_full 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
title_fullStr 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
title_full_unstemmed 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
title_short 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
title_sort 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
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8145028/
https://www.ncbi.nlm.nih.gov/pubmed/33925106
http://dx.doi.org/10.3390/diagnostics11050798
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