ESPE Abstracts

Background: Among children with idiopathic short stature, Italian data reported a prevalence of short stature homeobox-containing gene (SHOX) deficiency disorders (SHOX-D) near to 1/1.000-2.000 (1.1-15%) with a wide phenotypic spectrum. Current guidelines support recombinant human growth hormone (rhGH) therapy in SHOX-D children, but long-term data are still lacking. This national survey aims to evaluate long-term efficacy and safety of rhGH therapy in Italian...

Background: Caregivers of patients with Bardet Biedl syndrome (BBS) face substantial burden from highly prevalent features of the disease, namely hyperphagia, or uncontrollable hunger, and obesity. However, the burden experienced by caregivers of individuals with BBS is not well characterized.Methods: A multicountry cross-sectional survey of caregivers of individuals with BBS was conducted to quantify the burden experien...

Background: Hyperphagia, or pathologic insatiable hunger, and early-onset obesity are prevalent clinical features of Bardet-Biedl syndrome (BBS), a rare genetic disorder. While hyperphagia and obesity have broad impacts on individuals with BBS and their caregivers, the extent of this burden is not well characterized.Methods: This multicountry cross-sectional survey of caregivers of individuals with BBS was conducted to q...

Introduction: Type 1 diabetes mellitus (T1DM) is characterized by insulin-producing pancreatic β-cells loss. Apo1/Fas, a glycosylated surface protein, is implicated in maintaining homeostasis of the immune system. Cytokeratin-18 (cCK-18) is a predictive marker of liver disorders in T2DM. Intercellular adhesion molecule-1 (ICAM-1) is considered a candidate gene for susceptibility to diabetes mellitus. Aim: To investigate the possible role of Apo1/Fas, cCK-...

ERF protein is a major binding target of ERK1/2 kinases, key effectors of the RAS–MEK–ERK signaling cascade. ERF has a role as a negative transcriptional regulator of RAS/MAPK mitogenic pathway (1) and, in theory, a loss-of-function mutation (LOF) in ERF could cause a Rasopathy phenotype. To date, LOF variants of ERF have been reported in 45 individuals with craniosynostosis but without a Noonan-like phenotype. There is only one case report describing a patient wit...

Introduction: Prader-Willi Syndrome (PWS), a common syndromic form of childhood obesity, is characterized by failure-to-thrive during infancy followed by progressive hyperphagia and obesity in childhood. The pathogenesis of hyperphagia and weight-gain in PWS is poorly understood and management strategies have had variable and limited success. Several studies support an etiological contribution of dysbiotic gut microbiota in the metabolic derangements of obesit...

Cystic fibrosis related diabetes (CFRD) is one of the main complications of cystic fibrosis (CF), following inflammatory-degenerative damage of the pancreas. Aim of our study was to evaluate the effects of replacement insulin therapy in patients with cystic fibrosis complicated by overt diabetes or pre-diabetes on BMI and respiratory function. We selected a sample of 17 insulin treated patients (Group T) and a sample of 17 controls with CF but normal glucose metabolism (Group ...

Background: Thyroid hormone plays a key role in bone mineral homeostasis and significant alterations in its circulating levels have been associated with an impairment in skeletal growth during childhood. To date, the effects of subclinical hypothyroidism (SH) on bones have not been studied and the management of this condition is still debated.Aim: To evaluate bone mineral density (BMD) in children with mild, persistent S...

Background: Growth hormone plays a primary role in stimulating postnatal growth by way of insulin-like growth factor 1 (IGF1) which is produced in the liver in response to GH. A deficiency of GH arrests maturation during childhood, and the stature of such subjects is generally much shorter than the average stature. However, some cases of GH deficiency attain normal stature as adults.Case presentation: A 20 years old man was referred for a further evaluat...

Objective: AMH causes fetal paramesonephric duct regression and is involved in testicular development and function. Sertoli cell AMH remains high during childhood until puberty. The appendix testis (AT), a remnant of the paramesonephric duct, contains both androgen and estrogen receptors. AT androgen receptors have been reported to play a role in embryonic testicular descent. The AT is commonly resected during orchiopexy and abdominal surgery as possible torsion in the future ...