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54th Annual ESPE

Barcelona, Spain
01 Oct 2015 - 03 Oct 2015

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Barcelona, Spain; 1-3 October 2015 Further information

Poster Category 3

Late Breaking Posters

hrp0084lbp-1256 | Late Breaking Posters | ESPE2015

Higher Expression of the Oncogene YAP1, a Wnt/β-Catenin Target, is associated with Poor Outcome in Pediatric Patients with Adrenocortical Tumors

Abduch Rafael H , Bueno Ana Carolina , Leal Leticia F , Cavalcanti Marcelo M , Brandalise Silvia R , Masterallo Maria J , Yunes Jose A , Martinelli Jr Carlos E , Scrideli Carlos A , Tone Luiz G , Tucci Silvio , Moreira Ayrton C , Ramalho Leandra Z , Castro Margaret , Antonini Sonir R

Background: overexpression of the oncogene Yes-associated protein 1 (YAP1), a Hippo pathway target, associates with increased cell proliferation in some human cancers. There is not data on adrenocortical tumors (ACT). YAP1 is a potential target of Wnt/β-catenin pathway, which plays an important role in ACTs.Objective and hypotheses: to evaluate the role of YAP1 and its interaction with the Wnt/β-catenin pathway in ACT.Met...

hrp0084lbp-1257 | Late Breaking Posters | ESPE2015

Prepubertal and Pubertal Predictors of Semen Quality in a Prospective Cohort Study of Russian Young Men: Focus on Endocrine-Disrupting Chemicals

Sergeyev Oleg , Minguez-Alarcon Lidia , Hauser Russ , Williams Paige L , Burns Jane S , Korrick Susan A , Dikov Yury , Smigulina Liudmila , Revich Boris , Lee Mary M

Background: We are not aware of other longitudinal cohort studies of boys with prepubertal assessment of exposure to endocrine-disrupting chemicals (EDCs) and annual long term follow-up of growth and puberty to evaluate semen quality.Objective: To describe semen quality and explore associations of prepubertal serum concentrations of organochlorine compounds and pubertal measures with semen parameters in an ongoing longitudinal cohort study of Russian boy...

hrp0084lbp-1258 | Late Breaking Posters | ESPE2015

A Distinct Population of Islet Cells Defines Diffuse Congenital Hyperinsulinism in Infancy but not Other Forms of the Disease

Han Bing , Newbould Melanie , Batra Gauri , Cheesman Edmund , Craigie Ross , Mohammad Zainab , Rigby Lindsey , Padidela Raja , Skae Mars , Mironov Aleksandr , Starborg Tobias , Kadler Karl , Cosgrove Karen , Banerjee Indraneel , Dunne Mark

Background/hypothesis: Congenital hyperinsulinism in infancy (CHI) mainly arises from mutations in ATP-sensitive potassium channel genes. However, the expression pattern of defects can be markedly diverse. In diffuse CHI (CHI-D) all islet cells express gene defects, whereas patients with focal CHI (CHI-F) only express defects in a localised region of islet cells due to loss of a maternally-imprinted locus. Here, we examined the properties of a novel population of CHI islet cel...

hrp0084lbp-1259 | Late Breaking Posters | ESPE2015

Adrenal Steroid Precursors Accumulating in Congenital Adrenal Hyperplasia lead to Transactivation of the Glucocorticoid Receptor

Pijnenburg-Kleizen Karijn , Engels Manon , Mooij Christiaan , Griffin Aliesha , Krone Nils , Span Paul , van Herwaarden Antonius , Sweep Fred , Claahsen-van der Grinten Hedi

Background: Congenital adrenal hyperplasia (CAH) patients are clinically often less severely affected by cortisol deficiency than anticipated from their enzymatic defect.Objective and hypotheses: We hypothesize that adrenal steroid hormone precursors that accumulate in untreated or poorly controlled CAH have glucocorticoid activity and partially compensate for cortisol deficiency. We aimed to determine the in vitro binding, translocation and tra...

hrp0084lbp-1260 | Late Breaking Posters | ESPE2015

Decreased AMY1 Gene Copy Number is Associated with Increased Obesity Risk in a Population of Caucasian School Children

Marcovecchio M Loredana , Florio Rosalba , Verginelli Fabio , De Lellis Laura , Verzilli Delfina , Chiarelli Francesco , Cama Alessandro , Mohn Angelika

Background: Genome-wide association studies have identified more than 60 SNPs associated with BMI. Additional genetic variants, such as copy number variations (CNV), have also been implicated in the pathogenesis of obesity. Recently, the highly polymorphic CNV in the salivary amylase (AMY1) gene has been associated with obesity risk in adults.Objective and hypothesis: To assess the potential association between AMY1 copy number and BMI ...

hrp0084lbp-1261 | Late Breaking Posters | ESPE2015

POLR3H Variant is Associated with Primary Ovarian Failure in Two Families

Franca Monica , Funari Mariana , Domenice Sorahia , Nishi Mirian , Costa Elaine , Gontijo Leticia , Latronico Ana Claudia , Jorge Alexander , Lerario Antonio , Mendonca Berenice

Background: Primary ovarian failure (POF) is a major cause of female infertility. POF is characterized by amenorrhea, hypo-estrogenism, and elevated gonadotrophin levels. In POF disorder, several genetic alterations have been described, however in most of the patients the etiology of this disorder remains unknown.Objective and hypotheses: To identify new genes implicated in the development of POF using whole-exome sequencing (WES)....

hrp0084lbp-1262 | Late Breaking Posters | ESPE2015

The Existence of an Androgen Responsive Transcriptome in the Peripheral Blood of Boys Extends the Utility of the HCG Stimulation Test

Rodie Martina , Herzyk Pawel , Mudaliar Manikhandan , Chudleigh Sandra , Tobias Edward , Ahmed Faisal

Background: The hCG stimulation test is a valuable method for assessing androgen production but there is a need to explore its utility in assessing androgen responsiveness and long-term prognosis.Objective and hypothesis: Our aim was to explore the effect of hCG stimulation on the peripheral transcriptome in boys undergoing investigation for DSD.Method: Thirteen boys undergoing investigation for 46,XY DSD received i.m. hCG 1500 U o...

hrp0084lbp-1263 | Late Breaking Posters | ESPE2015

Late Surgical Correction of Hypospadias Increases the Risk of Complication: a 501 Consecutive Patients Series

Garnier Sarah , Jeandel Clement , Cereda Barbara , Broussous Sylvie , Maillet Olivier , Lopez Christophe , Paris Francoise , Gaspari Laura , Philibert Pascal , Jeandel Claire , Coffy Amandine , Daures Jean Pierre , Sultan Charles , Kalfa Nicolas

Background: The surgical reconstruction of hypospadias is usually performed during the first 2 years of life but little objective data is available to determine its optimal timing. Whereas the no-early surgery option in DSD management is rising, the results of late genital surgery should be evaluated before advocating this attitude.Objective and hypotheses: To evaluate the outcome of hypospadias surgery according to age and to determine if some complicat...

hrp0084lbp-1264 | Late Breaking Posters | ESPE2015

Family History of Genital Malformation is Under-Estimated in Children with Isolated Hypospadias: A Clinical Report of 105 Families

Kalfa Nicolas , Philibert Pascal , Broussous Sylvie , Gaspari Laura , Coffy Amandine , Fauconnet-Servant Nadege , Audran Francoise , Lehors Helene , Guys Jean Michel , Reynaud Rachel , Merrot Thierry , Wagner Kathy , Breaud Jean , Kurzenne Jean Yves , Bastiani Florence , Valla Jean Stephane , Dobremez Eric , Daures Jean-Pierre , Paris Francoise , Sultan Charles

Background: Severe forms of 46,XY DSD with uncertain sex may have a family history (FH) in ~15–20% of cases. On the other side of the DSD spectrum, data regarding isolated hypospadias is sparse and a FH of genital malformation is thought to be less frequent.Objective and hypotheses: The aims of the study were i) to determine the frequency of genital abnormalities in families of isolated hypospadiac boys, ii) to determine whether there is a particula...

hrp0084lbp-1265 | Late Breaking Posters | ESPE2015

Profiling of a Novel NSIAD-Causing Mutation of Vasopressin Receptor 2 and its Differential Effect on Receptor Trafficking Compared to Previously Identified Mutations

Tiulpakov Anatoly , White Carl W , Abhayawardana Rekhati , Zubkova Natalia , Seeber Ruth M , See Heng B , Pfleger Kevin D G

Background: Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) results from gain-of-function mutations in the AVPR2 gene coding for vasopressin receptor 2 (V2R). In contrast, nephrogenic diabetes insipidus (NDI) is caused by loss-of-function mutations in AVPR2. Here we describe and functionally characterize a novel mutation located in the seventh transmembrane domain of V2R. This mutation was identified in a boy suffering from water-induced hyponatrem...

hrp0084lbp-1266 | Late Breaking Posters | ESPE2015

Determining the Effects of Race, Skin Colour, and Genotype on the Response to Vitamin D Therapy

Kothandapani Jaya Sujatha Gopal , Evans Lucy , Walsh Jennifer , Eastell Richard , Bishop Nick

Background: Over-dosing and under-dosing of vitamin D in children and young people appears to be common, based on our audit of current practice. The contribution of ethnicity, skin colour, and vitamin D binding protein (VDBP) genotype has not been fully explored during vitamin D treatment.Objective: To investigate how ethnicity/skin colour and genetic variation affect the response to 150 000 units of vitamin D administered to young adults of White Caucas...

hrp0084lbp-1267 | Late Breaking Posters | ESPE2015

Safety and Efficacy of Long-Acting GH (VRS-317) in Children with GHD: Effects of Dose Change in the Second Treatment Year

Bright George , Moore Wayne V , Nguyen Huong Jil , Kletter Gad B , Miller Bradley S , Fechner Patricia Y , Ng David , Humphriss Eric , Cleland Jeffrey L

Background: VRS-317, a novel fusion protein of rhGH exhibiting delayed clearance, serum half-life generally >100 h, and potential for once monthly dosing, was previously evaluated in a 6-month phase 1b/2a study of weekly, twice monthly or monthly dosing (5.0 mg/kg per month) in prepubertal GHD children (n=64).Objective and hypotheses: We evaluated whether increased VRS-317 dose from 12 to 18 months can offset the decrease in height velocitie...

hrp0084lbp-1268 | Late Breaking Posters | ESPE2015

Genetic Causes of Disproportional Short Stature Identified by Whole Exome Sequencing

Funari Mariana F A , Vasques Gabriela A , Lerario Antonio M , Freire Bruna L , Nishi Mirian Y , Franca Monica M , Shinjo Sueli M O , Marie Suely K N , Arnhold Ivo J P , Jorge Alexander A L

Background: Disproportional short stature (DSS) is the most frequent clinical presentation of skeletal dysplasias, which are a heterogeneous group of more than 450 disorders of bone. Skeletal survey is important to establish the diagnosis and to guide the genetic test, but has several limitations, especially in mild and atypical cases.Objective and hypotheses: To identify the genetic aetiology of DSS by exome sequencing.Method: Who...

hrp0084lbp-1269 | Late Breaking Posters | ESPE2015

Reduced Humanin Levels in Children with Type 1 Diabetes Mellitus

Hernandez Maria Isabel , Wan Junxiang , Valdes Carolina , Avila Alejandra , Codner Ethel , Cohen Pinchas

Background: Recent studies in multiple models of type 1 diabetes mellitus (T1DM) have demonstrated the role of mitochondrial abnormalities in the pathogenesis of this disease and its complications. Humanin is a potent cyto-protective and ‘metaboloprotective’ molecule in vitro and in vivo, including the protection of β cells from apoptosis, improvements in insulin secretion and action, and both prevention and treatment of diabetes in the NOD mou...

hrp0084lbp-1270 | Late Breaking Posters | ESPE2015

Long-Term Safety and Effectiveness of Daily and Weekly GH Treatment in Pediatric Patients

Kim Jae Hyun , Hwang Il Tae , Chung Sochung , Rhie Young-Jun , Chae Hyun-Wook , Shin Choong Ho

Background: Daily GH has been used to treat growth disorders in children for a long time. The weekly sustained-release GH formulation has been approved for treatment in GH deficiency (GHD). It provides a practical strategy for improving adherence. However, there is still a lack of sufficient clinical research data of weekly GH.Objective and hypotheses: To evaluate the long-term safety and effectiveness of two formulations of daily (Eutropin injection) an...