55ESPE Poster presented at: 818-P1 Alice Monzani DOI: 10.3252/pso.eu.55ESPE.2016 Syndromes : Mechanisms and Management SHOX mutations were identified in 15 subjects (5.3%). SHOX- D patients showed significantly higher prevalence of micrognathia (66.7% vs. 26.5%, p <0.01), short forearm (26.7% vs. 3.4%, p <0.01), muscular hypertrophy (40.0% vs. 14.5%, p <0.05) and Madelung deformity (13.3% vs. 1.7%, p <0.01). No difference was found between SHOX-D and non SHOX-D patients for ear’s anomalies, short neck, scoliosis, bowing of forearm and cubitus valgus prevalences. The arm span, the sitting height and the ratios of arm span to height and sitting height to height were similar in the two groups. Using a Rappold score >7 points and >4 points, as screening criterion to perform the genetic analyses of SHOX gene, out of 15 children with SHOX mutations, 11 and 9 subjects would be missed, respectively. 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. H a p l o i n s u f f i c i e n c y o f s h o r t s t a t u r e h o m e o b o x c o n t a i n i n g g e n e ( S H O X ) : c l i n i c a l s i g n s a n d a n t h r o p o m e t r i c m e a s u r e m e n t s i n c h i l d r e n . A. Monzani 1 , G. Genoni 1 , M. Castagno 1 , M. Giordano 2 , F. Prodam 1 , S. Bellone 1 , G. Bona 1 1 Division of Pediatrics, Department of Health Sciences, Università del Piemonte Orientale, Novara, Italy 2 Laboratory of Human Genetics, Department of Health Sciences, Università del Piemonte Orientale, Novara, Italy B a c k g r o u n d : SHOX gene analyses was performed by MLPA (multiplex ligation-dependent probe amplification) in 281 subjects, aged 2-18 years (mean age 8.6 4.0 years, 50.7% females, 70.8% prepubertal, mean height SDS -2.0 0.5) referred for short stature to our Endocrinology Unit. SHOX-D patients were compared to 117 age-, gender- and pubertal status matched children without SHOX mutations (mean age 8.0 3.7 years, 55.3% females, 78.1% prepubertal, mean height SDS -2.0 0.6) for clinical features. T a b . 1 A n t h r o p o m e t r i c d a t a o f s u b j e c t s w i t h ( S H O X D ) a n d w i t h o u t ( N o n - S H O X D ) SHOX mutations. Values are expressed as numbers (%) or mean SD. n.s.: not significant. T a b . 2 A n t h r o p o m e t r i c m e a s u r e m e n t s a n d d y s m o r p h i c s i g n s i n c h i l d r e n w i t h ( S H O X D ) a n d w i t h o u t ( N o n - S H O X D ) S H O X m u t a t i o n s . V a l u e s a r e e x p r e s s e d a s n u m b e r s ( % ) o r m e a n S D . n.s.: not significant. T a b . 3 S e n s i t i v i t y , s p e c i f i c i t y , p o s i t i v e ( P P V ) a n d n e g a t i v e p r e d i c t i v e v a l u e s ( N P V ) ( % ) o f t h e p r o p o s e d s c r e e n i n g c r i t e r i a f o r S H O X d e f i c i e n c y a n d o f g r o w t h v e l o c i t y o r R a p p o l d s c o r e > 7 / 4 p o i n t s . R S : R a p p o l d s c o r e M e t h o d : R e s u l t s : The phenotype of children with SHOX-D is highly variable and a positive Rappold score as criterion to screen for SHOX mutations would miss most of SHOX-D subjects. C o n c l u s i o n : R e f e r e n c e s 1. Binder G: Short stature due to SHOX deficiency: genotype, phenotype, and therapy. Horm Res Paediatr 2011, 75:81-89. 2. Rappold G, Blum WF, Shavrikova EP, Crowe BJ, Roeth R, Quigley CA, Ross JL, Niesler B: Genotypes and phenotypes in children with short stature: clinical indicators of SHOX haploinsufficiency. J Med Genet 2007, 44:306-313. 3. 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. J Clin Endocrinol Metab 2003, 88:4891-4896. 4. Wolters B, Lass N, Wunsch R, Böckmann B, Austrup F, Reinehr T: Short Stature before Puberty: Which Children Should Be Screened for SHOX Deficiency? Horm Res Paediatr 2013, 80:273-280. 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 measurements in identifying SHOX-D. O b j e c t i v e a n d h y p o t h e s e s :