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

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.

TRANSITION IN ENDOCRINOLOGY: Treatment of Turner's syndrome during transition

“…However, patients with monosomy X tend to have the most severe phenotype. The results of studies assessing the impact of X origin (maternal/paternal) on TS phenotype are inconclusive (4,6,7,8). The isoX anomaly is often associated with autoimmunity, whilst the ring X karyotype is also associated with psychological and learning difficulties (9,10,11).…”

Parental Origin of the Retained X Chromosome in Monosomy X Miscarriages and Ongoing Pregnancies

“…Most of these studies were small series including 4-39 live-born patients with Turner syndrome [20,23,24,[32][33][34][35][36]. The 2 largest series with 97 children [5] and 93 prepubertal patients [37] showed rates in the lower range (71-72%).…”

A heterozygous mutation in RPGR associated with X‐linked retinitis pigmentosa in a patient with Turner syndrome mosaicism (45,X/46,XX)

“…A proportion of her cells contained two X chromosomes (28%), whereas the rest had only one X chromosome (72%). Most of the studies which have targeted the parental origin of the X chromosome in Turner syndrome have shown that, in the majority of monosomy Turner syndrome patients, the paternal X chromosome was lost and approximately 70% of patients retained a maternal X chromosome (Alvarez‐Nava et al, ). High myopia is documented to be the most striking phenotypic feature in affected females, which could be the earliest and most reliable guide to the affected female with XLRP (Al‐Maskari, O'grady, Pal, & McKibbin, ).…”