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Article

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

1
Department of Endocrinology and Diabetology, The Children’s Memorial Health Institute, 04-730 Warsaw, Poland
2
Department of Paediatric and Adolescent Endocrinology, University Children’s Hospital, 30-663 Cracow, Poland
3
Department of Endocrinology and Diabetology of Children and Adolescents, Wroclaw Medical University, 50-368 Wroclaw, Poland
4
Department of Paediatrics, Diabetology and Endocrinology, Medical University of Gdansk, 80-952 Gdansk, Poland
5
Department of Endocrinology and Metabolic Diseases, Polish Mother’s Memorial Hospital—Research Institute, 93-338 Lodz, Poland
6
Department of Paediatric Endocrinology and Rheumatology, Institute of Paediatrics, Poznan University of Medical Sciences, 60-572 Poznan, Poland
7
II Clinic of Paediatrics, Endocrinology and Paediatric Diabetology, Clinical Regional Hospital No 2, 35-301 Rzeszow, Poland
8
Department of Paediatrics, Endocrinology, Diabetology, Metabolic Disorders and Cardiology of Developmental Age, Pomeranian Medical University, 71-242 Szczecin, Poland
9
Collegium Medicum, Jan Kochanowski University, 25-317 Kielce, Poland
*
Author to whom correspondence should be addressed.
The Polish Coordination Group for rhGH Treatment members that participated in the study are listed in the Acknowledgments.
Academic Editor: José M. Millán
Diagnostics 2021, 11(5), 798; https://doi.org/10.3390/diagnostics11050798
Received: 13 March 2021 / Revised: 23 April 2021 / Accepted: 24 April 2021 / Published: 28 April 2021
(This article belongs to the Special Issue Genetic Testing for Rare Diseases)
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. View Full-Text
Keywords: Prader–Willi syndrome; imprinting disorder; recombinant human growth hormone; insulin-like growth factor 1 Prader–Willi syndrome; imprinting disorder; recombinant human growth hormone; insulin-like growth factor 1
MDPI and ACS Style

Lecka-Ambroziak, A.; Wysocka-Mincewicz, M.; Doleżal-Ołtarzewska, K.; Zygmunt-Górska, A.; Żak, T.; Noczyńska, A.; Birkholz-Walerzak, D.; Stawerska, R.; Hilczer, M.; Obara-Moszyńska, M.; Rabska-Pietrzak, B.; Gołębiowska, E.; Dudek, A.; Petriczko, E.; Szalecki, M.; on behalf of the Polish Coordination Group for rhGH Treatment. 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. Diagnostics 2021, 11, 798. https://doi.org/10.3390/diagnostics11050798

AMA Style

Lecka-Ambroziak A, Wysocka-Mincewicz M, Doleżal-Ołtarzewska K, Zygmunt-Górska A, Żak T, Noczyńska A, Birkholz-Walerzak D, Stawerska R, Hilczer M, Obara-Moszyńska M, Rabska-Pietrzak B, Gołębiowska E, Dudek A, Petriczko E, Szalecki M, on behalf of the Polish Coordination Group for rhGH Treatment. 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. Diagnostics. 2021; 11(5):798. https://doi.org/10.3390/diagnostics11050798

Chicago/Turabian Style

Lecka-Ambroziak, Agnieszka, 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, and on behalf of the Polish Coordination Group for rhGH Treatment. 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" Diagnostics 11, no. 5: 798. https://doi.org/10.3390/diagnostics11050798

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