Iris Noordman1, Anthonie Duijnhouwer2, Livia Kapusta3, Marlies Kempers4, Nel Roeleveld5, Michiel Schokking1, Dominique Smeets4, Kim Freriks6, Henri Timmers7, Janiëlle van Alfen-van der Velden8. 1. Department of Paediatrics, Amalia Children's Hospital, Radboud University Medical Centre, Nijmegen, The Netherlands. 2. Department of Cardiology, Radboud University Medical Centre, Nijmegen, The Netherlands. 3. Department of Paediatrics, Amalia Children's Hospital, Radboud University Medical Centre, Nijmegen, The Netherlands; Pediatric Cardiology Unit, Tel-Aviv Sourasky Medical Centre, Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel. 4. Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands. 5. Department for Health Evidence, Radboud University Medical Centre, Nijmegen, The Netherlands. 6. Department of Internal Medicine, Tjongerschans Hospital, Heerenveen, The Netherlands. 7. Department of Internal Medicine, Section of Endocrinology, Radboud University Medical Centre, Nijmegen, The Netherlands. 8. Department of Paediatrics, Amalia Children's Hospital, Radboud University Medical Centre, Nijmegen, The Netherlands. Electronic address: Janielle.vanalfen-vandervelden@radboudumc.nl.
Abstract
INTRODUCTION: Turner syndrome (TS) is a genetic disorder characterized by the (partial) absence or a structural aberration of the second sex chromosome and is associated with a variety of phenotypes with specific physical features and cardio-aortic malformations. The objective of this study was to gain a better insight into the differences in dysmorphic features between girls and women with TS and to explore the association between these features, karyotype and cardio-aortic malformations. METHODS: This prospective study investigated 14 dysmorphic features of TS girls and women using a checklist. Three major phenotypic patterns were recognized (severe phenotype, lymphatic phenotype and skeletal phenotype). Patient data including karyotype and cardio-aortic malformations (bicuspid aortic valve (BAV) and aortic coarctation (COA)) were collected. Associations between the prevalence of dysmorphic features, karyotype and cardio-aortic malformations were analysed using chi2-test and odds ratios. RESULTS: A total of 202 patients (84 girls and 118 women) were analysed prospectively. Differences in prevalence of dysmorphic features were found between girls and women. A strong association was found between monosomy 45,X and the phenotypic patterns. Furthermore, an association was found between COA and lymphatic phenotype, but no association was found between karyotype and cardio-aortic malformations. CONCLUSION: This study uncovered a difference in dysmorphic features between girls and women. Monosomy 45,X is associated with a more severe phenotype, lymphatic phenotype and skeletal phenotype. All patients with TS should be screened for cardio-aortic malformations, because in contrast to previous reports, karyotype and cardio-aortic malformations showed no significant association.
INTRODUCTION:Turner syndrome (TS) is a genetic disorder characterized by the (partial) absence or a structural aberration of the second sex chromosome and is associated with a variety of phenotypes with specific physical features and cardio-aortic malformations. The objective of this study was to gain a better insight into the differences in dysmorphic features between girls and women with TS and to explore the association between these features, karyotype and cardio-aortic malformations. METHODS: This prospective study investigated 14 dysmorphic features of TS girls and women using a checklist. Three major phenotypic patterns were recognized (severe phenotype, lymphatic phenotype and skeletal phenotype). Patient data including karyotype and cardio-aortic malformations (bicuspid aortic valve (BAV) and aortic coarctation (COA)) were collected. Associations between the prevalence of dysmorphic features, karyotype and cardio-aortic malformations were analysed using chi2-test and odds ratios. RESULTS: A total of 202 patients (84 girls and 118 women) were analysed prospectively. Differences in prevalence of dysmorphic features were found between girls and women. A strong association was found between monosomy 45,X and the phenotypic patterns. Furthermore, an association was found between COA and lymphatic phenotype, but no association was found between karyotype and cardio-aortic malformations. CONCLUSION: This study uncovered a difference in dysmorphic features between girls and women. Monosomy 45,X is associated with a more severe phenotype, lymphatic phenotype and skeletal phenotype. All patients with TS should be screened for cardio-aortic malformations, because in contrast to previous reports, karyotype and cardio-aortic malformations showed no significant association.
Authors: M J Schleedoorn; B H Mulder; D D M Braat; C C M Beerendonk; R Peek; W L D M Nelen; E Van Leeuwen; A A E M Van der Velden; K Fleischer; On Behalf Of The Turner Fertility Expert Panel Journal: Hum Reprod Date: 2020-05-01 Impact factor: 6.918
Authors: Myra Schleedoorn; Janielle van der Velden; Didi Braat; Ina Beerendonk; Ron van Golde; Ron Peek; Kathrin Fleischer Journal: BMJ Open Date: 2019-12-11 Impact factor: 2.692
Authors: Iris D Noordman; Anthonie L Duijnhouwer; Misty Coert; Melanie Bos; Marlies Kempers; Henri J L M Timmers; Zina Fejzic; Janiëlle A E M van der Velden; Livia Kapusta Journal: J Clin Endocrinol Metab Date: 2020-11-01 Impact factor: 5.958
Authors: Iris D Noordman; Zina Fejzic; Melanie Bos; Anthonie L Duijnhouwer; Gert Weijers; Marlies Kempers; Remy Merkx; Janiëlle A E M van der Velden; Livia Kapusta Journal: Am J Med Genet A Date: 2021-05-10 Impact factor: 2.802