hrp0082p2-d1-421 | Growth Hormone | ESPE2014

The Effects of Delaying Puberty with GnRH Agonists in Patients with Idiopathic GH Deficiency

Dunger David B , Lindberg Anders , Dorr Helmut G , Camacho-Hubner Cecilia , Geffner Mitchell E

Background: Treating central precocious puberty with GnRH agonist (GnRHa) to increase height gain is well-established. Although not recommended, GnRHa have also been used in patients with IGHD at onset of puberty yet there are few data on its efficacy.Objective and hypotheses: Growth prediction models derived from KIGS (Pfizer International Growth Database) may provide an opportunity to estimate additional height gain produced by pubertal blockade.<p...

hrp0082p3-d3-696 | Bone (2) | ESPE2014

A Korean Boy with Pseudohypoparathyrodism Type Ia Presenting with Congenital Megacolon and Spinal Stenosis: Identification of a Novel GNAS Gene Mutation

Lee J E , Lee S H , Cho S Y , Ki C S , Jin D K

Pseudohypoparathyroidism (PHP) is a disease of rare frequency. There are five subtypes with each having different phenotypes and blood laboratory test results, which depend on gene mutation and hereditary styles. Among them, the most common type is PHP Ia which inherits maternal gene mutation and expresses Albright’s hereditary osteodystrophy (AHO) appearance, hypocalcemia, hyperphosphatemia and serum parathyroid hormone elevation. Another type, pseudo-pseudohypoparathyro...

hrp0082p3-d2-824 | Growth (1) | ESPE2014

GH Deficiency in a Case with Neurofibromatosis-Noonan Syndrome

Vuralli Dogus , Gonc E Nazli , Vidaud Dominique , Ozon Z Alev , Alikasifoglu Ayfer , Kandemir Nurgun

Background: Neurofibromatosis-Noonan Syndrome (NFNS) is a distinct entity which has variable features of both neurofibromatosis 1 (NF1) and Noonan syndrome (NS). In majority of cases NF1 mutations have been demonstrated. Short stature is one of the major causes for these patients requiring medical attention. GH deficiency (GHD) may accompany in some cases with NF1 or NS cases, however there are rare case reports on NFNS receiving GH therapy.Objective and...

hrp0082p3-d1-955 | Sex Development | ESPE2014

Severe Undervirilisation in a 46,XY Case due to a Novel Mutation in HSD17B3 Gene

Alikasifoglu Ayfer , Vuralli Dogus , Hiort Olaf , Gonc E Nazli , Ozon Z Alev , Kandemir Nurgun

Background: 17-β-hydroxysteroid dehydrogenase 3 (17-β-HSD3) deficiency is a rare disorder of sex development due to impaired conversion of androstenedione to testosterone. Children with 46,XY karyotype often have female appearing external or ambiguous genitalia at birth. At the time of puberty, virilisation can occur. Therefore 46,XY patients with HSD17B3 gene defects should be raised as male.Objective and hypotheses: When a child with 46,XY ka...

hrp0084wg3.4 | DSD | ESPE2015

I-DSD and I-CAH Registry Update

Ahmed Faisal , Bryce J , Jiang J , Watt J , Rodie M E

Background: Whilst adhering to the highest standards of data governance and security, the International DSD Registry (www.i-dsd.org) and the International CAH Registry (www.i-cah.org) allow standardised collection of data and promote multicentre collaboration across national boundaries and across multiple clinical and research disciplines.Results: By April 2015, over 1600 cases had bee...

hrp0084fc8.2 | Obesity - Basic | ESPE2015

Apoptosis Inhibitor of Macrophages: an Anti-Inflammatory Adipocyte Factor in Mild Adolescent Obesity?

Karvela Alexia , Avgeri Aikaterini , Vlotinou Eleni D , Georgiou George , Papaxristou Dionysios , Miyazaki Toru , Spiliotis Bessie E

Background: Adipose tissue (AT) in obesity is characterized by low grade inflammation. The apoptosis inhibitor of macrophages (AIM; also called CD5L) is incorporated into adipocytes leading to increased lipolysis. Excess AIM-dependent lipolysis induces adipose tissue macrophage recruitment. M1 (proinflammatory) macrophage infiltration, with surface marker CD40, correlates with metabolic complications.Objective and hypotheses: To study serum levels and AT...

hrp0084p1-20 | Bone | ESPE2015

24-Hydroxylase Polymorphism as a Possible Contributor to the Increased 1,25(OH)2D in African Americans

Carpenter Thomas O , Cole David E C , Ardeshirpour Laleh , Salehpour Shadab

Background: States of vitamin D insufficiency are important determinants of rickets, as well as osteoporosis and other common complex disorders like diabetes, cancer, and infectious diseases. Although, serum concentrations of the vitamin D metabolites are primarily driven by vitamin D supply (by diet or cutaneous synthesis), there is emerging evidence to suggest that single nucleotide variants (SNVs) are important genetic determinants.Objective and hypot...

hrp0084p1-103 | Perinatal | ESPE2015

Molecular Characterization of a Novel Non-stop KCNJ11 Mutation Associated with a Dual Focal and Diffuse Hyperinsulinaemic Hypoglycaemia Phenotype

Arya Ved Bhushan , Aziz Qadeer , Flanagan Sarah E , Ellard Sian , Tinker Andrew , Hussain Khalid

Background: Hyperinsulinaemic hypoglycaemia (HH) has two main histological subtypes: diffuse and focal. Diffuse HH are most commonly due to recessive or dominant ABCC8/KCNJ11 mutations. Focal HH results due to somatic loss of the maternal 11p allele involving the ABCC8 and KCNJ11 region in patients with paternally inherited ABCC8 or KCNJ11 mutation.Aim: To molecular characterise a novel non-stop KCNJ11</em...

hrp0084p1-104 | Perinatal | ESPE2015

Diazoxide Responsive Congenital Hyperinsulinism in a Patient with Dual Genetic Aetiology (HNF4A and ABCC8 Mutation)

Giri Dinesh , Flanagan Sarah E , Park Julie , Ellard Sian , Didi Mo , Sennaippan Senthil

Background: Congenital hyperinsulinism (CHI) results from unregulated insulin secretion from pancreatic β-cells, which leads to persistent hypoglycaemia. Mutations in nine different genes are reported and phenotypic variability exists both within and between the genetic subgroups. Variable penetrance has been described in some families with the same mutation; for example HNF4A mutations cause neonatal hypoglycaemia and/or maturity onset diabetes of the young (MODY).<p...

hrp0084p2-293 | Diabetes | ESPE2015

Quality of Life in Adolescent with Type 1 Diabetes and Its Relationship with Metabolic Control

Espi E Aranzazu Garza , Frances Gracia Maria Lou , Aznar Elena Corella , Lozano Marta Ferrer

Background: Type 1 diabetes (T1D) has great psychological impact on adolescents and family’s lifestyle. It influences their perception of their quality of life (QOL), their metabolic control, and it may lead to future complications.Objectives: Identify how QOL affects on T1D adolescents and its relation to metabolic control.Methods: This is a retrospective study of 55 adolescents with T1D. Diabetes impacts patients’ conce...