ESPE Abstracts

Background: Turner syndrome (TS) associates with decreased bone mineral density and altered bone geometry, a risk factors leading to increased fracture rate. Although hypogonadism or SHOX gene haploinsufficiency are the probable causes, the exact mechanism remains unclarified. Particularly, the muscle function as an important determinant of bone strength has yet not been widely studied in TS patients.Objective and hypotheses: We hypothesised there is mus...

Background: Terminal Xp-deletion causes a variant of Turner syndrome (TS). Several studies described the associated phenotype: gonadal function is generally preserved and short stature is the major clinical feature.Case presentation: We present a family with vertical transmission of TS affecting six women in four subsequent generations. SNP-array indicates that the chromosomal aberration in this family includes terminal Xp-deletion and terminal Xq-duplic...