hrp0086p1-p818 | Syndromes: Mechanisms and Management P1 | ESPE2016

Haploinsufficiency of Short Stature Homeobox Containing Gene: Clinical Signs and Anthropometric Measurements in Children

Genoni Giulia , Monzani Alice , Castagno Matteo , Giordano Mara , Prodam Flavia , Bellone Simonetta , Bona Gianni

Background: Haploinsufficiency of short stature homeobox containing gene (SHOX) is one of the main monogenic causes of short stature. The phenotype of SHOX deficiency (SHOX-D) is often mild, making difficult to identify which short-statured children should be screened.Objective and hypotheses: To estimate the prevalence of SHOX-D in Italian short-statured children and to analyse their phenotype and the sensitivity of various scores and anthropometric mea...

hrp0084p2-451 | Growth | ESPE2015

SHOX Deficiency: Clinical, Radiological Signs and Value of Screening Scores

Genoni Giulia , Esposito Sandra , Agarla Valentina , Monzani Alice , Castagno Matteo , Raviolo Silvia , Petri Antonella , Prodam Flavia , Bellone Simonetta , Bona Gianni

Objective and hypotheses: We studied the prevalence of deficiency in the short stature homeobox containing gene (SHOX) in short-statured children and analysed clinical and radiological signs.Method: A total of 162 children aged 1–17 years (53% females, 67% prepubertal, median age 6.6 years, median height SDS −1.7) presenting with short stature between 2008 and 2014, were analysed for SHOX mutations by direct sequencing and multiplex ligation p...