Volume 82 | ESPE2014 | Next issue

ESPE 2014

Dublin, Ireland
18 Sep 2014 - 20 Sep 2014

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Dublin, Ireland; 18-20 September 2014. Further information

hrp0082lbp-d3-1001 | (1) | ESPE2014

Histological Evaluation of Patients with Partial Gonadal Dysgenesis and NR5A1 Mutations: Review in Leydig and Germ Cell Pattern

de Andrade Juliana Gabriel Ribeiro , Werner Ralf , Fabbri Helena Campos , Guerra-Junior Gil , Maciel-Guerra Andrea Trevas , de Mello Maricilda Palandi , Holl-Ulrich Konstanze , Hiort Olaf

Background: Recent data describe that the gonads of patients with partial gonadal dysgenesis (PGD) and mutation in the NR5A1 gene can present with a different histological pattern.Objective and hypotheses: To evaluate histological aspects of PGD caused by NR5A1 mutations.Method: Five patients with PGD, a history of gonadal biopsy or gonadectomy and confirmed mutation on NR5A1 gene were selected from a Bra...

hrp0082lbp-d3-1002 | (1) | ESPE2014

Pseudoexon Activation in Nicotinamide Nucleotide Transhydrogenase in Two Siblings with Familial Glucocorticoid Deficiency

Chan Li , Novoselova Tatiana , Rath Shoshana , Carpenter Karen , Atkinson H , Dickinson Jan , Pachter Nick , Price G , Choong Cathy , Metherell Lou

Background: Two siblings of non-consanguineous parents presented with FGD, demonstrated by ACTH resistance with glucocorticoid but not mineralocorticoid deficiency. The proband presented at 21 months, unresponsive with hypoglycaemia (BGL 1.5 mmol/l). Endocrine evaluation subsequent to resuscitation indicated adrenal insufficiency with elevated ACTH. Hydrocortisone therapy was commenced. A sibling, 4 years younger than the proband had a short Synacthen test (SST) performed on d...

hrp0082lbp-d3-1003 | (1) | ESPE2014

Increasing Incidence of Infants Born Small and Large for Gestational Age Over 20 Years

Chiavaroli Valentina , Castorani Valeria , Guidone Paola , Di Giovanni Ilaria , Liberati Marco , Chiarelli Francesco , Mohn Angelika

Background: Infants born small (SGA) and large (LGA) for gestational age have been identified at increased risk of perinatal morbidity and later cardio-metabolic alterations. Nevertheless, the progression over time in incidence of SGA and LGA births is yet to be determined.Objective and hypotheses: To investigate temporal trends in SGA and LGA infants compared to those born appropriate (AGA), and to identify factors potentially associated over a 20-year ...

hrp0082lbp-d3-1004 | (1) | ESPE2014

Methyl Donor Deficiency Impairs Pre-Osteoblast Differentiation Through PGC-1α Hypomethylation and Increased ERRα

Feigerlova Eva , Ewu Essi , Weryha Georges , Leininger Brigitte , Gueant Jean-Louis

Background and aims: Folate and vitamin B12 are methyl donors (MD) needed for the synthesis of methionine, which is the precursor of S-adenosylmethionine (SAM), the substrate of methylation in epigenetic, and epigenomic pathways. Low dietary intakes of folate and vitamin B12 are frequent, especially in pregnant women and in the elderly, and deficiency constitutes a risk factor for various diseases. The MD deficiency (MDD) leads to a decrease in SAM:SAH (S-ade...

hrp0082lbp-d3-1005 | (1) | ESPE2014

A 2-Year Multi-Centre, Open Label, Randomized Two Arm Study of Genotropin Treatment in Very Young Children Born Small for Gestational Age: Early Growth and Neurodevelopment

De Schepper Jean , Vanderfaeillie Johan , Mullis Primus-E , Rooman Raoul , Matthews Lisa , Dilleen Maria , Browning Richard , Gomez Roy , Wollmann Hartmut

Background: There are limited data available on the efficacy and safety of GH treatment in very young (<30 months) short children, born small for gestational age (SGA).Objectives: To determine the effect of 24 months of GH treatment on body height, BMI, and head growth as well as overall psychomotor development (using the Bayley Scale of Infant Development (BSID-II)) and demonstrate its safety in young (aged between 19 and 29 months) short SGA childr...

hrp0082lbp-d3-1006 | (1) | ESPE2014

Abstract withdrawn....

hrp0082lbp-d3-1007 | (1) | ESPE2014

Hepatic NAD Metabolism is Dysregulated by an Excessive Supply of Lipids

Kiess Wieland , Penke Melanie , Treebak Jonas T , Schuster Susanne , Gorski Theresa , Garten Antje

Background: Animal and human studies have shown that nicotinamide phosphoribosyltransferase (NAMPT), the key enzyme of mammalian NAD biosynthesis from nicotinamide, is modified in non-alcoholic fatty liver disease. Here, we investigated the effect of a high fat diet on hepatic NAD metabolism in mice.Objective and hypotheses: A dysregulation of NAD metabolism is a pathogenic factor for the development of steatohepatitis (NASH).Metho...

hrp0082lbp-d3-1008 | (1) | ESPE2014

Long-Term Impact of Childhood-Onset Type 1 Diabetes: Social Insertion, Quality of Life, Sexuality

Mellerio Helene , Guilmin-Crepon Sophie , Jacquin Paul , Alberti Corinne , Levy-Marchal Claire

Background: Little is known about the long-term social outcome of diabetic children.Objective and hypotheses: This study aimed to describe social and professional life, quality of life (QOL) and sexuality at adult age of children and adolescents with type 1 diabetes (T1D).Method: Participants (n=388, age=28.5±3.1 years; duration of diabetes=17.0±2.7 years, recruited from a French national register) completed a qu...

hrp0082lbp-d3-1009 | (1) | ESPE2014

Family Studies of CYP21A2 Gene Identify Different Haplotypes for Nonclassical 21-Hydroxylase Deficiency in Brazilian Population

de Paula Michelatto Debora , Grimaldi Larissa Magalhaes , Alpiste Marcel Costa , Baptista Maria Tereza Matias , Guerra-Junior Gil , Valente de Lemos-Marini Sofia Helena , Palandi de Mello Maricilda

Background: Congenital adrenal hyperplasia, one of the most frequent autosome recessive disorders, is caused by defects in steroidogenic enzymes involved in the cortisol biosynthesis. Approximately 95% of cases are caused by a deficiency of the 21-hydroxylase enzyme. Its deficiency leads to androgen excess, consequently, to virilization and rapid somatic growth with accelerated skeletal maturation. Mutations in CYP21A2 are responsible for different forms of 21-hydroxylase defi...

hrp0082lbp-d3-1010 | (1) | ESPE2014

Effect of Triptorelin 3.75 mg Subcutaneously Injection Every 6 Weeks on Adult Height in Girls with Idiopathic Central Precocious Puberty

Liang Yan , Wei Hong , Li Jie , Hou Ling , Zhang Jianling , Wu Wei , Ying Yanqin , Luo Xiaoping

Objective and hypotheses: To evaluate the long-term efficacy of triptorelin 3.75 mg subcutaneously injection every 6 weeks on final height in girls with ICPP.Method: Forty females with ICPP received triptorelin 3.75 mg every 6 weeks subcutaneously injection and reached FAH were collected. These patients were divided into two groups. Group A: GnRHa alone, n=17; group B: triptorelin+rhGH, n=23. During the treatment, height, weight, annual...

hrp0082lbp-d3-1011 | (1) | ESPE2014

The Circulating miRNAs Expression in Simple Obese Children

Liang Liyang , Meng Zhe , Liu Zulin , Hou Lele , Zhang Lina , Lao Wenqin

Background: Childhood obesity is a major health concern worldwide which is associated with increased risk of chronic diseases such as metabolic syndrome (MS). MicroRNAs have been showed to play regulatory roles in several biological progresses such as adipocyte differentiation, glucose and lipid metabolism and insulin signaling pathway. The studies of the circulating miRNAs expressing involved in obesity and MS are of essential importance as it could lead to the identification...

hrp0082lbp-d3-1012 | (1) | ESPE2014

Total and Acylated Ghrelin Levels in Children and Adolescents with Growth Retardation

Nourbakhsh Mitra , Latifi Mona , Ilbeygi Davod , Azar Maryam Razzaghy

Background: Ghrelin is a somatotropic and orexigenic protein secreted primarily from stomach.Objective and hypotheses: Since both GH secretion and nutrition, two fundamental contributors in growth promotion, are enhanced by ghrelin, the aim of this study was to investigate the relationship of ghrelin hormone with growth retardation in 3- to 16-year-old children and adolescents and determine whether ghrelin levels are different between normal subjects and...

hrp0082lbp-d3-1013 | (1) | ESPE2014

Copy Number Determination of CYP21A2 Gene Supplements the Molecular Biological Analysis of Hungarian Patients with 21-Hydroxylase Deficiency

Klara Koncz , Andrea Luczay , Marton Doleschall , Racz Karoly , Attila Patocs , Sallai Agnes , Hosszu Eva , Halasz Zita

Background: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder caused by 21-hydroxylase deficiency in 95% of all cases. This disorder is related to the mutation of CYP21A2 gene that is located in a multiallelic complex called RCCX module showing tandem copy number variation. Molecular genetic analysis of genes located in such region is frequently difficult but the accurate diagnosis of patients suspected with CAH requires a complex molecular analysis.<...

hrp0082lbp-d3-1014 | (1) | ESPE2014

CpG Methylation Changes within the INS, HLA-G and PTPN-22 Promoters in Childhood Type 1 Diabetes

Kyrgios Ioannis , Mouzaki Konstantina , Spandonidis Theodoros , Fragou Aikaterini , Tzimagiorgis Georgios , Eboriadou-Petikopoulou Maria , Galli-Tsinopoulou Assimina

Background: Alterations in DNA methylation status of specific genetic loci may affect gene expression, thus leading to autoimmunopathies.Objective and hypotheses: This study aimed to investigate possible differences in DNA methylation pattern between type 1 diabetes mellitus (T1DM) youngsters and healthy controls.Method: Ten T1DM participants and 10 age-/gender-matched controls were enrolled. DNA was extracted from white blood cell...

hrp0082lbp-d3-1015 | (1) | ESPE2014

A Secular Trend for Pubertal Timing in Swedish Men Born 1946–1991: The BEST Cohort

Bygdell Maria , Vandenput Liesbeth , Ohlsson Claes , Kindblom Jenny M

Background: A secular trend for the timing of menarche has been described in women, but for men, studies of pubertal timing are scarce. Both negative and positive associations between childhood obesity and pubertal timing in men have been reported. In Sweden, Child Health Care (CHC) centers follow all children regarding growth and general health. We have collected detailed CHC growth data (height and weight) from centrally archived records for all children born 1946 or later i...

hrp0082lbp-d3-1016 | (1) | ESPE2014

The Diverse Phenotype of Mutations in T3 Receptor Alpha (TRα)

van Gucht Anja , Demir Korcan , Zwaveling Nitash , Wennink Hanneke , Buyukinan Muammer , Catli Gonul , Dundar Bumin Nuri , Meima Marcel , Visser Edward , van Trotsenburg Paul , Visser Theo , Peeters Robin

Background: Recently, the first patients with resistance to thyroid hormone (RTHα) due to inactivating mutations in TRα1 have been identified. These patients are characterized by growth retardation, delayed bone development, mild cognitive defects, delayed motor development and abnormal thyroid function tests.Objective and hypotheses: We hypothesized that the phenotype of a TRα mutation depends on its location, e.g. if it is present only i...

hrp0082lbp-d3-1017 | (1) | ESPE2014

Exploring the Pathogenesis of Hypothalamic Obesity: the Interaction of Hormonal, Neuronal and Psychological Factors

Steele Caroline , Powell Joanne , Kemp Graham , Halford Jason , Wilding John , Harrold Joanne , Das Kumar , Cuthbertson Daniel , Javadpour Mohsen , MacFarlane Ian , Stancak Andrej , Daousi Christina

Background: Acquired hypothalamic damage frequently causes obesity (BMI ≥30 kg/m2), often refractory to treatment. The interaction of hormonal, neuronal and psychological factors underlying hypothalamic obesity (HO) remains poorly understood.Methods: In fasted and fed states participants underwent blood sampling (GLP-1, insulin, PYY, ghrelin and glucose), fMRI scanning (viewing food/non-food photographs) and assessment of hunger and sati...