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

Autor: Liliana Silvano, Tatiana Pardo, Natalia Y. Tkalenko, José M. Quintero, Adriana Boyanofsky, Lisbeth Borjas, Joalice Villalobos, Henry Marcano, Marisol Soto, Miriam Azaretzky, Roberto Lanes, Nancy Unanue, Martha Suarez, Hugo L. Fideleff, Mirta Miras, Gabriel Fideleff, Peter Gunczler, William Zabala, Verónica Mericq, Miriam Llano, Liliana Franchioni, Francisco Álvarez-Nava
Rok vydání: 2013
Předmět:
Zdroj: International Journal of Pediatric Endocrinology
ISSN: 1687-9856
Popis: Background It 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. Methods This 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. Results Seventy 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. Conclusions The 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.
Databáze: OpenAIRE
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