Short stature and skeletal disproportion is recognised in individuals with Turner Syndrome, with several studies demonstrating disproportionately lower leg length compared to sitting height. The skeletal disproportion is thought to at least,in part, to be due to the short stature homeobox containing gene (SHOX) abnormality. Whilst all girls with short stature deserve investigation to rule out Turner Syndrome, the identification of a short pre-pubertal girl with disproportionately shorter legs should raise the index of suspicion further. The availability of reference data for sitting height/height ratio SDS may facilitate this as up to 60% of TS girls have a sitting height/height ratio SDS >+2.0. There is limited information on skeletal disproportion in adults with TS. Current evidence suggests that the disproportion still exists although may be less severe. The role of therapy with recombinant human growth hormone and oestrogen replacement on disproportion in Turner Syndrome is unclear. Finally, poor bone development leading to osteoporosis is a recognised complication of Turner Syndrome. It is unclear if girls with Turner Syndrome with greater degree of disproportion are at greater risk of osteoporosis, as a subset of girls with a more severe skeletal phenotype, and this deserve further studies.
10 - 12 Sep 2016
European Society for Paediatric Endocrinology