ESPE Abstracts

There is little information on metabolic profiles and Body Composition in children with Silver-Russell syndrome (SRS).Methods: 31 SRS patients [16 subjects with 11p15 loss of methylation (11pLOM) and 15 subjects with maternal uniparental disomy of chromosome 7 (mUPD7); mean age 7.4±4.3 years] and non-SRS subjects [34 small for gestational age (SGA), 13.4±2.7 years, and 44 appropriate for gestational age (AGA), 6.9 ± 1.4 ye...

Background: ROHHAD/ROHHADNET syndrome (rapid-onset obesity with hypothalamic dysfunction, central hypoventilation, autonomic dysregulation with or without neural tumor - NET) – has been reported in association with cerebral venous thrombosis events, as reported also in central hypoventilation syndrome. It is not clear whether thrombotic risk represents a cause or a consequence of hypoventilation and hypothalamic dysfunction. Aim of our study was to chara...

Background: ROHHAD syndrome (rapid-onset obesity with hypothalamic dysfunction, central hypoventilation, autonomic dysregulation) – also defined as ROHHADNET when associated with neural tumors - is a rare condition with a high mortality rate. The aim of this study is to describe the phenotypes of a multicentric cohort of ROHHAD patients.Patients and Methods: We retrospectively analyzed clinical data from 22 patient...

Achondroplasia is the most common skeletal dysplasia caused by a gain of function of the fibroblast growth factor receptor 3(FGFR3) that impairs endochondral ossification, exiting in short stature and altered bone microarchitecture. Although fractures and reduced bone mineralization are not comorbidities frequently reported, specific normative DXA data are lacking. Aim of the study was to assess bone density parameters in an Achondroplasia cohort. Fifty-seven patients (Female-...

Background: Childhood-onset obesity is a multifactorial disease with a lifelong health burden. In many cases, obesity is the result of the interaction between genetic predisposition and environmental factors. Aim of our study was to define phenotypic features of obese children and adolescents and to find possible associations between clinical phenotype and genetic variants.Patients and Methods: We recruited obese childre...

Background: Hypergonadotropic hypogonadism (HH) is an hallmark of Turner Syndrome (TS) and hormone replacement therapy (HRT) is often required for pubertal induction; this retrospective study highlights the pituitary-gonadal axis during infancy (<5 years), childhood (5–10.9 years) and adolescence (> 11 years) in a cohort of TS patients enrolled between February 1999 to March 2023. Our aim is to underline the diagnostic role of Gonadotropins as a ma...

Background: Severe primary insulin-like growth factor-1 deficiency (SPIGFD) is a rare growth disorder characterised by extreme short stature, low serum IGF-1 and normal/elevated serum growth hormone (GH). Some patients receive GH treatment before recombinant human IGF-1 (rhIGF-1; Increlex® [mecasermin]). We investigated rhIGF-1 effectiveness and tolerability in patients previously treated with GH versus GH naïve patients at rhIGF-1 initiati...

Background: Bone and body composition data in Achondroplasia (Ach) treated or not with vosorotide are lacking.Aim: To assess longitudinally body composition and bone markers in children with Ach during Vosorotide treatment (V-Tx).Method: Twenty-one patients (F=11, M=10) underwent DXA evaluation before (T0) and after 12 months of V-Tx (T12): bone mineral density-BMD (g/cm2</sup...

Introduction and Objectives: Data on bone health in young Turner Syndrome (TS) patients (pts) are scarce. aims of the study were: to evaluate lumbar (L1-L4) and total body (TBLH) bone mineral density (BMD) in a cohort of TS between 5-25 yrs; to assess the prevalence and the incidence of fractures (fx), bone turnover markers (BTM) and determinants of dual-X-ray-absorbiometry (DXA) parameters.Methods: Antropometrics, BMT (...

Introduction: Central precocious puberty (CPP) is due to premature activation of the hypothalamic-pituitary-gonadal axis. Mutations in the imprinted gene MKRN3 are the most common monogenic form of CPP. Recently, attention was directed to DLK1, another imprinted gene. Defects in this gene resulted to be a rare cause of CPP in girls and adult women with precocious menarche, obesity and metabolic derangement. We aimed to investigate a cohort of female and male p...