Skeletal disproportion in Turner syndrome

Abstract

Background and Aims Untreated, Turner Syndrome (TS) results in a mean final height deficit of 21cm [1]. rhGH therapy can increase final height by 5cm, if commenced early [2]. Delayed diagnosis of TS still occurs [3,4]. In SHOX haploinsufficiency, children have disproportionately short limbs in relation to their spines [5]. The aims of this study are to 1) Evaluate sitting height and leg length in prepubertal girls with TS before rhGH 2) Evaluate sitting height and leg length with growth promoting therapies. Methods Retrospective study of clinic data from the West of Scotland TS clinic Those with chronic disease potentially affecting growth were excluded eg. IBD, coeliac disease, thyroid disease, malignancy. Results 1)Rochiccioli P, David M, Malpeuch G et al. Study of final height in Turner's syndrome: ethnic and genetic influences. Acta Paediatr 1994;83:305-8. 2)Betts PR, Butler GE, Donaldson MC et al. A decade of growth hormone treatment in girls with Turner syndrome in the UK. Arch Dis Child 1999;80:221-5. 3)Massa G, Verlinde F, Schepper JD et al. Trends in age at diagnosis of Turner syndrome. Arch Dis Child 2005;90:267-8. 4)Savendahl L, Davenport ML. Delayed diagnoses of Turner's syndrome: proposed guidelines for change. J Pediatr. 2000;137(4):455-9. 5)Binder G, Ranke MB, Martin DD. Auxology is a valuable instrument for the clinical diagnosis of SHOX haploinsufficiency in school-age children with unexplained short stature.