ESPE2024 Poster Category 2 Growth and Syndromes (39 abstracts)
Prevalence and changes in genetic and clinical abnormalities in growth hormone-treated girls with Turner syndrome: a study from the Belgian-Luxembourgish growth hormone registry (BELGROW)
Laure Boutsen 1,2 , Muriel Thomas 3 , Jean De Schepper 4 , Fransiska Verlinde 3 , Dominique Beckers 1 , Claudine Heinrichs 5 , Kristina Casteels 6 , Martine Cools 7 , Hilde Dotremont 8 , Cécile Brachet 5 , Anne-Simone Parent 9 , Sophie Lambert 10 , Guy Massa 11 , Daniel Klink 12 , Karl Logghe 13 , Sylvia Depoorter 14 , Julie Fudvoye 15 , Nele Reynaert 16 , Marianne Becker 17 & Philippe Lysy 2
1CHU UCL Namur, Yvoir, Belgium. 2Cliniques universitaires Saint-Luc, Brussel, Belgium. 3BELSPEED (BELux Society for PEdiatric Endocrinology and Diabetology), Brussel, Belgium. 4UZ Brussel, Brussel, Belgium. 5Hôpital Universitaire des Enfants Reine Fabiola, Brussel, Belgium. 6UZ Leuven, Leuven, Belgium. 7UZ Gent, Gent, Belgium. 8UZ Antwerpen, Edegem, Belgium. 9CHU de Liège, Liège, Belgium. 10Clinique CHC MontLègia, Liège, Belgium. 11Jessa Ziekenhuis, Hasselt, Belgium. 12ZNA Koniging Paola Kinderziekenhuis, Antwerpen, Belgium. 13AZ Delta, Roeselare, Belgium. 14AZ SintJan, Brugge, Belgium. 15CHU Liège / CHR Citadelle, Liège, Belgium. 16Ziekenhuis Oost-Limburg, Genk, Belgium. 17Centre Hospitalier du Luxembourg, Luxembourg, Luxembourg
Background: Since the initial clinical description of Turner Syndrome (TS), there have been notable changes in the genotypic and phenotypic presentation of the disease. Our aimis to provide an overview of the current genetic and clinical characteristics of a large Belgian cohort of girls with TS, and the evolution over the last 3 decades.
Methods: We therefore analyzed the genetic and clinical data of growth hormone(GH)-treated girls with TS, included in BELGROW (national GH registry of the BELux Society for Pediatric Endocrinology and Diabetology) between 1985 and 2022. Age at diagnosis, karyotype, and phenotype were retrieved from 719 girls with TS. Changes between two time periods (1991-2002 [Group 1, n = 250] vs 2003-2017 [Group 2, n = 272]) were studied.
Results: No significant trend in the number of patients with TS starting GH was observed (mean number 19/year). The majority of patients were diagnosed with 45,X monosomy (44%) whereas 26.5% carried structural anomalies of the X chromosome (isochromosome being the most frequent), 13% had 45,X/46,XX mosaicism, 4% were mosaic for a "triple X" cell line, 6.4% had 45,X/46,XY mosaicism or complex Y chromosome anomalies and 5.6% other genotypes. The percentage of 45,X decreased from 46% in Group 1 to 38% in Group 2 (P < 0.05). Median age (p25-75) at diagnosis in the overall cohort was 6.4 years (0.2-11.1), 7.7% were diagnosed prenatally, 24% before the age of 1 year, 49% during childhood and 19% after 12 years. The percentage of prenatal diagnosis increased significantly (15% in Group 2 vs 3% in Group 1, p-value < 0.001). Monosomy for X was diagnosed significantly earlier than all other genotypes combined (median age [p25-75] 2.2 years [0.0-9.9] vs 8 years [3-11.9], p-value < 0.001). 45,X/46,XX and 45,X/46,X,i(X) mosaics were diagnosed at a later age (9.45 years, p-value < 0.01 and 9.0 years respectively, p-value < 0.001), compared to other genotypes. The most frequently affected body systems were the skeletal (73%), neurosensory (60%) and cardiac system (29%). Cardiac (p-value < 0.01) and skeletal (p-value < 0.05) malformations were more frequent in 45,X patients in comparison with other genotypes.
Conclusion: The proportion of different genotypes and the timing of diagnosis changed significantly since 1991, while the number of TS girls initiating GH therapy in Belgium and Luxembourg remained stable. The most frequently associated malformations are skeletal and cardiac anomalies, especially in patients carrying 45,X genotype. The genotype-phenotype correlation should be further clarified, ideally within the framework of international registries.
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