ESPE Abstracts

Background: PAPP-A2 is a metalloproteinase that specifically cleaves IGFBPs 3 and 5. Papp-a2 knock-out (KO) mice show a reduction in body size and skeletal abnormalities.Objective and hypotheses: Our objective is to report two affected families from Spain and USA. The Spanish family presents a homozygous frameshift mutation in exon 3 of the PAPP-A2 gene (c.1927_ 1928insAT, p.D643fs25X) resulting in a premature stop codon, with 2 of 4 si...

Background: Severe hypertriglyceridemia, defined as triglyceride concentration greater than 11.2 mmol/L, predisposes to acute pancreatitis, a serious complication with mortality rate as high as 6.5% in children (1).Our case highlights the use of insulin infusion to rapidly lower the triglyceride level and the long term management in a young infant with familial chylomicronemia syndrome (FCS) due to lipoprotein lipase deficiency.<stro...

Background: An early diagnosis and treatment based on neonatal screening offers a normal cognitive development in patients affected with congenital hypothyroidism (CH). However, several studies within cohorts of young adults have shown a still existing difference compared to control groups of up to eight IQ points. Moreover it has been claimed recently that a high L-T4 dose with subsequent episodes of overtreatment results in less favourable IQ outcom...

Background: GH treatment for ISS received first approval in the USA in 2003 based on data from two controlled clinical trials. Eligibility is restricted to those with baseline (BL) height standard deviation score (HtSDS) ≤−2.25; other approvals followed, but not in Europe.Objective and hypotheses: To assess outcomes of GH therapy in a large cohort of patients (pts) treated in routine clinical practice.Methods: Short-ter...

Background: Type 2 diabetes (T2D) is an emerging disease in the pediatric population. T2D is associated with metabolic-associated fatty liver disease (MAFLD). High-density lipoproteins (HDLs) are lipoproteins that are believed to have atheroprotective properties that reduce the risk of cardiovascular disease (CVD). Current evidence suggests that the physicochemical and functional features of HDLs may play a key role in the pathogenesis of atherosclerosis.<...

Background: A few patients with NS have been reported to harbour pathogenic mutations in LZTR1 gene. RAS regulation by LZTR1-mediated ubiquitination provides an explanation for the role of LZTR1 in human disease. Mutations in this gene could hence lead to NS phenotype. Three patients with mutations in this gene and compatible NS phenotype are herein described.Case 1: A 5 year-old boy with bilateral cryp...

Introduction: Short stature is a multifactorial condition caused by both genetic and environmental factors. Genetic causes include chromosomal disorders and diseases inherited by monogenic and multifactorial inheritance. The purpose of genetic evaluation in short stature is not only for diagnosis, but also to provide additional information to the patients and their families about prognosis of the disease, treatment approaches and genetic counseling.<p clas...

Glutamic acid decarboxylase (GAD) is the enzyme that catalyzes the conversion of L-glutamat into GABA, one of the classical neurotransmitters with neuroinhibitory function. GAD is present in GABAergic neurons and in pancreatic beta cells. It is remarkable that Anti-GAD antibody(Anti-GADab) can have different disease manifestations, i.e., Type 1 diabetes mellitus (T1DM), Stiff-Person Syndrome, limbic encephalitis (LE), epilepsy. Cooccurence of T1DM and LE is reported in the lit...

Objective: Fetuin-A has many different functions due to its ability to bind to different toll-like receptors in different tissues. Working in different groups will contribute to our understanding of the pathophysiology of Fetuin-A. In this study, we aimed to evaluate Fetuin-A levels in obese adolescents and the relationship between Fetuin-A and anthropometric data, insulin levels and high sensitivity CRP(HSCRP). Material and Meth...

Introduction Objective: The SHOX gene is located in pseudoautosomal region of chromosomes of Xp22.33 and Yp11.32. It plays role in proliferation and differentiation of epiphyseal chondrocyte. Leri-Weill syndrome is observed with loss of an allele, while missense mutations lead to idiopathic short stature without any dysmorphic findings. This report presents clinical features of three cases diagnosed with Leri-Weill syndrome, and their responses to rhGH treatme...