ESPE Abstracts

Backgound: There is insufficient knowledge about the characterisation of insulin, glucagon, amylin, pancreatic polypeptide (PP) and Pancreas/Duodenum Homeobox Protein 1 (PDX-1) in pancreatic tissue of children with diffuse (DCHI) and focal (FCHI) congenital hyperinsulinism (CHI).Objective(s): To understand the expression profile and localisation of insulin, glucagon, amylin, PP and PDX-1 in pancreatic tissue of children with DCHI and FCHI.<p class="a...

Kallman syndrome is defined by the association of anosmia due to an agenesis of the olfactory bulbs and hypogonadotropic hypogonadism due to a GnRH deficiency which is currently explained by a deficit of GnRH neuron migration from the olfactory placode toward the hypothalamus. In fact, the X-linked form of KS is due to loss of function mutations in ANOS1 which encodes an extracellular protein (ANOSMIN) interacting with cell membrane heparin sulfate proteoglycans but a...

Background: Congenital adrenal hyperplasia (CAH) is a relatively common monogenic recessive disorder with an incidence of 1/15 000 in most populations. It has been suggested that CYP21A2 deficiency is relatively common because it may confer a survival advantage to be a carrier. Carriers of CYP21A2 mutations typically do not have clinical symptoms but have a defined phenotype. The cortisol response to ACTH stimulation has been shown to be both...

Background: Bisphosphonates have been used for treatment of bone fragility disorders for over 25 years to increase bone mineral density (BMD). Anecdotally, bisphosphonate-treated Osteogenesis Imperfecta (OI) has a different trajectory to the natural history of untreated OI, with minimal published evidence to support this clinical observation.Aims: To describe functional outcomes of a cohort of adults with OI, stratified according to severity and treated ...

Introduction: Hypoglycemia is a common problem in neonatal period associated with adverse neurological outcome and brain injury if treatment was not provided. AAP and PES recommended screening for hypoglycemia only in newborns with risk factors but many others neonates may present episodes of asymptomatic hypoglycemia without any known risk factor.Objectives: To assess the incidence of hypoglycemia in healthy full term neonates without any risk factors i...

Introduction: Klotho is a protein which may serve as a regulator of GH secretion. Growth hormone deficiency is diagnosed in children with growth restriction when GH secretion in two GH stimulation tests do not exceed the level of 10 ng/ml.Aim: The objective of the study was to investigate Klotho and FGF23 in children with growth hormone deficiency (GHD) and their responce to the treatment with recombinant human growth hormone (rHGH).<p class="abstext...

Introduction: Idiopathic intracranial hypertension (IIH) is a rare entity in childhood. It is characterized by signs and symptoms of increased intracranial pressure with normal neurological examination (except for possible paresis of the sixth cranial nerve), cerebrospinal fluid study and neuroimaging. The association between HII and treatment with growth hormone (GH) was first described in 1993 by the Food and Drug Administration and it has later been demonstrated. Incidence ...

Background: Data on congenital isolated growth hormone deficiency (cIGHD), mostly due to consanguinity, treated in childhood and followed into adult age is very rare and on few patients.Aim: To assess the clinical and social characteristics of adults with cIGHD who were treated in childhood and followed thereafter.Subjects: Thirty nine patients with cIGHD from our clinic were followed into adult age (mean age 30.7±13.3). All w...

Background: The GH-IGF system plays an important role in strength gain. Some studies suggest that Zinc, Magnesium and Pyridoxine (ZMA) supplementation could increase GH/IGF and testosterone levels in young subjects. This hypothetical increase could lead to significant changes in body composition. ZMA is a very popular supplement, easily found in specialty stores, and it is presumed to increase GH, IGF-I and testosterone levels. However, studies are divergent regarding its effi...

Background: Mathematical models predicting final height (FH) and its standard deviation score (SDS) in children with growth hormone deficiency is an important tool for clinicians to manage treatment process. Previously developed models do not have enough accuracy or are not good enough for practical use.Objective and hypotheses: We used four binary and seven continuous predictors available at the time of diagnosis and start of therapy and developed multi...