PMID- 38481442 OWN - NLM STAT- MEDLINE DCOM- 20240315 LR - 20240315 IS - 1664-2392 (Print) IS - 1664-2392 (Electronic) IS - 1664-2392 (Linking) VI - 15 DP - 2024 TI - Evaluating the relationship between the proportion of X-chromosome deletions and clinical manifestations in children with turner syndrome. PG - 1324160 LID - 10.3389/fendo.2024.1324160 [doi] LID - 1324160 AB - PURPOSE: Analyze the relationship between changes in the proportion of X-chromosome deletions and clinical manifestations in children with Turner syndrome (TS). METHODS: X-chromosome number abnormalities in 8,635 children with growth retardation were identified using fluorescence in situ hybridization (FISH). Meanwhile, the relationship between the proportion of X-chromosome deletions and the clinical manifestations of TS, such as face and body phenotype, cardiovascular, renal, and other comorbidities in children with TS was analyzed. RESULTS: A total of 389 children had X-chromosome number abnormalities, with an average age at diagnosis of 9.2 years. There was a significant increase in diagnoses around the ages of 3 and 7 years and highest number of diagnoses at 10 years of age. 130 with XO (complete loss of an X-chromosome), 205 with XO/XX, 8 with XO/XXX, 23 with XO/XX/XXX, 19 with XO/XY, and 4 with XO/XY/XYY. Body and facial phenotypes increased with higher mosaicism proportions, with a relatively high correlation shown with Pearson correlation analysis (r = 0.26, p = 1.7e-06). The incidence of congenital heart malformations was 25.56%, mainly involving a bicuspid aortic valve, and were more common in patients who had complete loss of an X-chromosome. However, this relationship was not present for renal disease (p = 0.26), central nervous system, thyroid, or liver disease. CONCLUSION: The mosaicism (XO/XX) is the most common karyotype of TS in screened cases. The phenotypes in children with TS may increase with the proportion of X-chromosome deletions, but the renal disease and comorbidities did not show the same characteristics. CI - Copyright (c) 2024 Wang, Liu, Wang, Wang, Zhang, Allegaert, Mei, Zhang, Luo, Fang, Li, Chen and Wei. FAU - Wang, Gaowei AU - Wang G AD - Henan Key Laboratory of Children's Genetics and Metabolic Diseases, Henan Children's Neurodevelopment Engineering Research Center, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou, China. FAU - Liu, Xiaojing AU - Liu X AD - Department of Endocrinology, Genetics and Metabolism, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou, China. FAU - Wang, Meiye AU - Wang M AD - Henan Key Laboratory of Children's Genetics and Metabolic Diseases, Henan Children's Neurodevelopment Engineering Research Center, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou, China. FAU - Wang, Jin AU - Wang J AD - Henan Key Laboratory of Children's Genetics and Metabolic Diseases, Henan Children's Neurodevelopment Engineering Research Center, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou, China. FAU - Zhang, Zhenhua AU - Zhang Z AD - Henan Key Laboratory of Children's Genetics and Metabolic Diseases, Henan Children's Neurodevelopment Engineering Research Center, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou, China. FAU - Allegaert, Karel AU - Allegaert K AD - Department of Development and Regeneration, KU Leuven, Leuven, Belgium. AD - Department of Pharmaceutical and Pharmacological Sciences, KU Leuven, Leuven, Belgium. AD - Department of Hospital Pharmacy, Erasmus MC, Rotterdam, Netherlands. FAU - Mei, Daoqi AU - Mei D AD - Department of Neurology, Children's Hospital Affiliated to Zhengzhou University, Henan Provincial Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou, Henan, China. FAU - Zhang, Yaodong AU - Zhang Y AD - Henan Key Laboratory of Children's Genetics and Metabolic Diseases, Henan Children's Neurodevelopment Engineering Research Center, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou, China. FAU - Luo, Shuying AU - Luo S AD - Henan Key Laboratory of Children's Genetics and Metabolic Diseases, Henan Children's Neurodevelopment Engineering Research Center, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou, China. FAU - Fang, Yang AU - Fang Y AD - Department of Laboratory Medicine, Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan, China. FAU - Li, Dongxiao AU - Li D AD - Henan Key Laboratory of Children's Genetics and Metabolic Diseases, Henan Children's Neurodevelopment Engineering Research Center, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou, China. FAU - Chen, Yongxing AU - Chen Y AD - Department of Endocrinology, Genetics and Metabolism, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou, China. FAU - Wei, Haiyan AU - Wei H AD - Department of Endocrinology, Genetics and Metabolism, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou, China. LA - eng PT - Journal Article DEP - 20240228 PL - Switzerland TA - Front Endocrinol (Lausanne) JT - Frontiers in endocrinology JID - 101555782 SB - IM MH - Child MH - Humans MH - *Turner Syndrome/complications/epidemiology/genetics MH - Chromosome Deletion MH - In Situ Hybridization, Fluorescence MH - Chromosomes, Human, X/genetics MH - Karyotyping MH - *Kidney Diseases/genetics PMC - PMC10933015 OTO - NOTNLM OT - X-chromosome OT - mosaicism OT - phenotype OT - short stature OT - turner syndrome COIS- The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. EDAT- 2024/03/14 06:46 MHDA- 2024/03/15 06:43 PMCR- 2024/01/01 CRDT- 2024/03/14 04:00 PHST- 2023/10/19 00:00 [received] PHST- 2024/02/13 00:00 [accepted] PHST- 2024/03/15 06:43 [medline] PHST- 2024/03/14 06:46 [pubmed] PHST- 2024/03/14 04:00 [entrez] PHST- 2024/01/01 00:00 [pmc-release] AID - 10.3389/fendo.2024.1324160 [doi] PST - epublish SO - Front Endocrinol (Lausanne). 2024 Feb 28;15:1324160. doi: 10.3389/fendo.2024.1324160. eCollection 2024.