hrp0086fc4.5 | Pathophysiology of Obesity | ESPE2016

Novel Association between the Non-synonymous A803G Polymorphism of the N-acetyltransferase 2 Gene and Impaired Glucose Homeostasis in Obese Children and Adolescents

Marzuillo Pierluigi , Grandone Anna , Di Sessa Anna , Umano Giuseppina Rosaria , Cirillo Grazia , Perrone Laura , del Giudice Emanuele Miraglia

Background: The N-acetyltransferase 2 (NAT2) A803G polymorphism leading to substitution of lysine to arginine at residue 268 and codifying for a cytosolic enzyme catalysing acetyl-CoA-dependent N- and O-acetylation reactions, has been associated with decreased insulin sensitivity in a large adult population with the A allele associated with insulin resistance (IR)-related traits.Objective and hypotheses: We screened for this polymorphism, for th...

hrp0086fc12.5 | Neuroendocrinology | ESPE2016

Abnormal Corticospinal Tract Decussation in Kallmann Syndrome due to ANOS1 (KAL1) Mutations: An Explanation of the Mirror Movements Frequently Observed in These Patients

Gonzalez-Briceno Laura , Sonnet Emmanuel , Guimiot Fabien , Laquerriere Annie , Kerlan Veronique , Salem Douraied Ben , Gunczler Peter , de Roux Nicolas

Background: Mirror movements (MM) are frequently associated to Kallmann syndrome (KS). They are mainly observed in patients with ANOS1 (KAL1) mutations. MM have never been reported in ANOS1 mutated females. A defect in the contralateral inhibition of the pyramidal tract has been proposed as the mechanism of MM in KS but never demonstrated.Objective and hypotheses: To investigate the molecular mechanism of a familial case of gonadotropic deficiency in whi...

hrp0086rfc9.3 | Pathophysiology of Disorders of Insulin Secretion | ESPE2016

Molecular Analysis of a Large Cohort of MODY Patients by Next Generation Sequencing

Artuso Rosangela , Orlandini Valerio , Palazzo Viviana , Giunti Laura , Landini Samuela , Provenzano Aldesia , La Barbera Andrea , Giglio Sabrina , Stagi Stefano

Background: Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes that accounts for 2–5% of all cases but it is underestimated because it’s often misdiagnosed as T1D or T2D whose symptoms are often overlapping. It is a phenotypically and genetically heterogeneous disorder characterised by autosomal dominant inheritance, a young age of onset and pancreatic β-cell dysfunction.Objective and hypotheses: Actually in about ...

hrp0086p2-p275 | Diabetes P2 | ESPE2016

Pancreatic Reserve and Metabolic Control of Type 1 Diabetes in a Cohort of Spanish Children and Adolescent

Laura Bertholt Zuber Maria , Cristina Luzuriaga Tomas Maria , Andres de Llano Jesus , Freijo Martin Concepcion , Naranjo Gonzalez Cristina

Objective: To evaluate the pancreatic reserve and metabolic control in our patient diagnosed of type 1 diabetes over the last 20 years.Method: Retrospective cohort study of all patients <15 years, diagnosed in our community between 01/01/1995 and 31/12/2014. Variables: gender, age at diabetes debut, age at study, c-peptide after stimulation with glucagon at debut and 1 month after, HbA1c at debut, 1 month, 1 year, 2 years, 5 and 10 years of debut. Co...

hrp0086p1-p336 | Gonads &amp; DSD P1 | ESPE2016

Polycystic Ovary Syndrome in Adolescence: New Therapeutic Approach with Inositol and Alpha-Lipoic Acid

Torge Nunzia , Iezzi Maria Laura , Varriale Gaia , Farello Giovanni , Basti Claudia , Zagaroli Luca , Lasorella Stefania , Verrotti Alberto

Background: Polycystic Ovary Syndrome (PCOS) is characterized by clinical and/or biochemical hyperandrogenism, oligo-anovulation and/or ultrasound finding of polycystic ovaries. Insulin-resistance represents the etiopathogenetic key of PCOS: a deficit of Inositol’s tissue availability seems to be responsible for this clinical picture. Hyperglycemia resulting insulin-resistance, determines a state of chronic inflammation, which increases oxidative stress.<p class="abst...

hrp0086p2-p666 | Growth P2 | ESPE2016

Usefulness of Growth Hormone Transient Treatment Suspension in Prepubertal Children Treated with Growth Hormone

Martinez Barahona Maria , Cecenarro Laura , Murillo Valles Marta , Luisa Granada Ybern M. , Ropero Ramos Esther , Bel Comos Joan

Background: The primary goal of treatment is to achieve a final height within the normal range and avoid the physical and psychological consequences of short stature (SS). If after a time, treatment efficacy criteria are not achieved, it is necessary to revalue its usefulness. There is no consensus about which conduct should be adopted in these cases. An alternative, is the suspension of rhGH treatment and evaluate the clinical and biochemical results to decide to continue or ...

hrp0086p1-p810 | Syndromes: Mechanisms and Management P1 | ESPE2016

Phenotypic Variability in a Family with a New SHOX Gene Mutation

Festa Adalgisa , Grandone Anna , Luongo Caterina , Sasso Marcella , Mariani Michela , Del Giudice Emanuele Miraglia , Minari Roberta , Vottero Alessandra , Perrone Laura

Background: The phenotype of SHOX aploinsufficiency is highly variable also in affected members of the same family with broad differences in severity of short stature, disproportion, presence of Madelung deformity.Case presentation: We present a family with a new mutation of SHOX gene. A 2.3 years old girl, born at term from unrelated parents, came to our observation for short stature. Her height was −2.02 SDS, arm span was normal, sitting heigh/he...

hrp0082fc6.3 | Gonads &amp; DSD | ESPE2014

LRH1 Rescues SF1 Deficiency for Steroidogenesis in vitro but Cannot Explain the Broad Phenotype of SF1 Deficiency in men

Camats Nuria , Fernandez-Cancio Monica , Audi Laura , Andaluz Pilar , Mullis Primus E , Carrascosa Antonio , Fluck Christa E

Introduction: Steroidogenic factor1 (SF1/NR5A1) regulates adrenal and sex development and function. SF1 mutations manifest with a broad phenotype; generally in 46,XY individuals with disorders of sex development (DSD) and in women with ovarian insufficiency. So far, no genotype–phenotype correlation has been found. We hypothesized that the broad phenotype of SF1 mutations may be due to a second hit in a gene with similar function. Liver receptor homolog-1 (LRH1/<...

hrp0082p1-d3-22 | Adrenals &amp; HP Axis (1) | ESPE2014

Clinical Utility of Urinary Steroid Metabolite Ratios in Children Undergoing Investigations for Suspected Disorders of Steroid Synthesis

Lucas-Herald Angela , Rodie Martina , Lucaccioni Laura , Rankin Karen , Shaikh Guftar , McNeilly Jane , Shapiro David , Ahmed Faisal

Background: Calculation of a urinary steroid metabolite ratio (uSMR) may be a useful method of improving diagnostic yield when investigating disorders of steroid hormone synthesis. Our aim was to investigate the range of uSMR in children with suspected disorders of steroid hormone synthesis.Methods: Ten ratios were calculated on steroid metabolite data analysed by GC-MS in urine samples collected between 2008 and 2010 from 94 children who were undergoing...

hrp0082p2-d1-292 | Bone | ESPE2014

Pseudohypoparathyroidism Type Ib: Two Cases with Different Clinical Presentation

Balsamo Claudia , Baronio Federico , Marsigli Angelica , Bonifacci Valentina , Mantovani Giovanna , Molinaro Angelo , Juppner Harald , Visconti Paola , Mazzanti Laura , Balsamo Antonio

Background: Sporadic pseudohypoparathyroidism type Ib (spor-PHP-Ib) is caused by GNAS methylation alterations with loss of imprinting at the exon A/B differentially methylated region (DMR), without genetic deletions disrupting the STX16 ICR. These patients classically display hormone resistance limited to PTH and TSH with no Albright hereditary osteodistrophy (AHO).Objective and hypotheses: We describe two cases with the same imprinting methylat...