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
Affiliations
Agnieszka Lecka-Ambroziak
Department of Endocrinology and Diabetology, The Children’s Memorial Health Institute, 04-730 Warsaw, Poland
Marta Wysocka-Mincewicz
Department of Endocrinology and Diabetology, The Children’s Memorial Health Institute, 04-730 Warsaw, Poland
Katarzyna Doleżal-Ołtarzewska
Department of Paediatric and Adolescent Endocrinology, University Children’s Hospital, 30-663 Cracow, Poland
Agata Zygmunt-Górska
Department of Paediatric and Adolescent Endocrinology, University Children’s Hospital, 30-663 Cracow, Poland
Teresa Żak
Department of Endocrinology and Diabetology of Children and Adolescents, Wroclaw Medical University, 50-368 Wroclaw, Poland
Anna Noczyńska
Department of Endocrinology and Diabetology of Children and Adolescents, Wroclaw Medical University, 50-368 Wroclaw, Poland
Dorota Birkholz-Walerzak
Department of Paediatrics, Diabetology and Endocrinology, Medical University of Gdansk, 80-952 Gdansk, Poland
Renata Stawerska
Department of Endocrinology and Metabolic Diseases, Polish Mother’s Memorial Hospital—Research Institute, 93-338 Lodz, Poland
Maciej Hilczer
Department of Endocrinology and Metabolic Diseases, Polish Mother’s Memorial Hospital—Research Institute, 93-338 Lodz, Poland
Monika Obara-Moszyńska
Department of Paediatric Endocrinology and Rheumatology, Institute of Paediatrics, Poznan University of Medical Sciences, 60-572 Poznan, Poland
Barbara Rabska-Pietrzak
Department of Paediatric Endocrinology and Rheumatology, Institute of Paediatrics, Poznan University of Medical Sciences, 60-572 Poznan, Poland
Elżbieta Gołębiowska
II Clinic of Paediatrics, Endocrinology and Paediatric Diabetology, Clinical Regional Hospital No 2, 35-301 Rzeszow, Poland
Adam Dudek
II Clinic of Paediatrics, Endocrinology and Paediatric Diabetology, Clinical Regional Hospital No 2, 35-301 Rzeszow, Poland
Elżbieta Petriczko
Department of Paediatrics, Endocrinology, Diabetology, Metabolic Disorders and Cardiology of Developmental Age, Pomeranian Medical University, 71-242 Szczecin, Poland
Mieczysław Szalecki
Department of Endocrinology and Diabetology, The Children’s Memorial Health Institute, 04-730 Warsaw, Poland
on behalf of the Polish Coordination Group for rhGH Treatment
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.
