ArticleInternational journal of pediatric endocrinology2013
Effect of the parental origin of the X-chromosome on the clinical features, associated complications, the two-year-response to growth hormone (rhGH) and the biochemical profile in patients with turner syndrome.
Article in International journal of pediatric endocrinology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 29 citations in OpenAlex.
- Genes with abnormal DNA methylation in chorionic villi of spontaneous abortions with monosomy X.Journal of assisted reproduction and genetics · 2026Article
- The Influence of X Chromosome Parent-of-Origin on Glycemia in Individuals with Turner Syndrome.Hormone research in paediatrics · 2026Article
- Are Young People with Turner Syndrome Who Have Undergone Treatment with Growth and Sex Hormones at Higher Risk of Metabolic Syndrome and Its Complications?Biomedicines · 2024Article
- The Hypothesis of the Prolonged Cell Cycle in Turner Syndrome.Journal of developmental biology · 2022Review
- Genetic conditions of short stature: A review of three classic examples.Frontiers in endocrinology · 2022Review
- Origin of the X-chromosome influences the development and treatment outcomes of Turner syndrome.PeerJ · 2021Article
- Metabolic Syndrome as a Risk Factor for Sensorineural Hearing Loss in Adult Patients with Turner Syndrome.The application of clinical genetics · 2020Article
- The role of sex in the genomics of human complex traits.Nature reviews. Genetics · 2019Review
- Cardiometabolic health in Turner syndrome.American journal of medical genetics. Part C, Seminars in medical genetics · 2019Review
- Anthropometric variables as cardiovascular risk predictors in a cohort of adult subjects with Turner syndrome.Diabetes, metabolic syndrome and obesity : targets and therapy · 2019Article
- Epigenetics in Turner syndrome.Clinical epigenetics · 2018Review
- At Term, XmO and XpO Mouse Placentas Show Differences in Glucose Metabolism in the Trophectoderm-Derived Outer Zone.Frontiers in cell and developmental biology · 2017Article
- X chromosome parental origin and aortic stiffness in turner syndrome.Clinical endocrinology · 2014Article
- Chromosome imbalance as a driver of sex disparity in disease.Journal of genomics · 2014Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
22 authors at 6 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundIt is possible that genes on the X chromosome are expressed differently depending of its parental origin. The objective of this study was to determine the influence of the parental origin of the X-chromosome on phenotypic variability, response to rhGH and on the biochemical profile of TS patients.
methodsThis was a cross-sectional multicenter correlational study carried out over three years in six Latin-American university hospitals. Unrelated 45,X TS patients (n = 93; 18.3 ± 8.5 years )) were evaluated. A subgroup (n = 34) of the patients were prospectively treated with rhGH over two years. DNA profiles of patients and their mothers were compared to determine the parental origin of the retained X-chromosome through 10 polymorphic X-chromosome-STRs. The association with clinical features, biochemical profiles and anthropometric data at the beginning and after two years of rhGH treatment was determined.
resultsSeventy two percent of patients retained the maternal X chromosome (Xm). A trend towards significance between maternal height and patients final height (p ≤ 0.07) in 45,Xm subjects was observed. There was no correlation between paternal height and patient height. No differences were detected between both groups in regard to dysmorphic features, classical malformations or increase in the height-SDS after rhGH. There were higher levels of triglycerides, total and LDL cholesterol in patients >20 years who retained the Xm.
conclusionsThe parental origin of the retained X chromosome may influence lipid metabolism in TS patients, but its effect on growth seems to be minimal. No parental-origin-effect on the phenotypic features, associated anomalies and on the growth response to rhGH was found in 45,X TS individuals.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.