Searchable abstracts of presentations at key conferences in endocrinology

ea0039ep101 | Pituitary and growth | BSPED2015

Case series evaluating phenotypical and radiological signs of patients with SHOX mutation

Childs Alexandra , Ferguson Jane , Burren Christine , Crowne Elizabeth , Moudiotis Christopher

Background: Estimates for the prevalence of SHOX mutation in children with short stature vary from 2 to 15%. Unless specific clinical and radiological signs are sought these patients can be misdiagnosed as idiopathic short stature. An evidence based clinical scoring system has been published to identify these patients; more recently characteristic radiological signs have also been identified in bone age X-rays. To our knowledge there has not been a survey in the UK ev...