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

Poster Presentations

Perinatal and Neonatal Endocrinology

hrp0082p1-d1-173 | Perinatal and Neonatal Endocrinology | ESPE2014

A Girl with Beckwith–Wiedemann Syndrome and Pseudohypoparathyroidism Type 1B, a Unique Example of Multiple Imprinting Defects

Bakker Boudewijn , Sonneveld Laura , Woltering Claire , Kant Sarina

Background: Although multiple imprinting defects have been found by genetic analysis in a subset of patients with Beckwith–Wiedemann Syndrome (BWS), very few patients have been described with both genetic and clinical signs and symptoms of multiple diseases caused by imprinting defects.Methods: Methylation analysis of the KCNQ1OT1 gene was performed by Southern blot, methylation analysis of the GNAS region was done by MLPA.<p class="abs...

hrp0082p1-d1-174 | Perinatal and Neonatal Endocrinology | ESPE2014

Use of Long Acting Somatostatin Analogue (Lanreotide) in Congenital Hyperinsulinism*

Shah Pratik , Gilbert Clare , Morgan Kate , Hinchey Louise , Levy Hannah , Button Roberta , Landy Niamh , Margetts Rebecca , Senniappan Senthil , Santacreu Emma Bascompta , Marti Carles Morte , Lezcano Carles Celma , Amin Rakesh , Hussain Khalid

Background: Congenital hyperinsulinism (CHI) is cause of severe hypoglycaemia. Octreotide (somatostatin analogue), given as four times daily s.c. injections or via a pump, is used as second line treatment in diazoxide unresponsive CHI patients.Objective and hypotheses: The aim of our study was to evaluate the use of a long acting somatostatin analogue (Lanreotide) in patients with CHI.Method: Diffuse CHI patients above three years ...

hrp0082p1-d1-175 | Perinatal and Neonatal Endocrinology | ESPE2014

The Role of mTORC1/RagGTPase and IGF1R/mTORC2/Akt Pathways and the Response of Diffuse Congenital Hyperinsulinism to Sirolimus

Senniappan Senthil , Tatevian Nina , Shah Pratik , Arya Ved Bhushan , Flanagan Sarah , Ellard Sian , Brown Robert , Hussain Khalid

Background: The gene expression microarray and morphoproteomics in diffuse congenital hyperinsulinism (CHI) revealed activation of the mammalian target of rapamycin (mTOR) pathway and the subsequent treatment of four diffuse CHI patients with sirolimus (mTOR inhibitor) avoided pancreatectomy.Objective and hypotheses: To further evaluate the mechanism of action of sirolimus by studying the expression of mTORC1/RagGTPase and IGF1R/mTORC2/Akt pathways in pa...

hrp0082p1-d1-176 | Perinatal and Neonatal Endocrinology | ESPE2014

A Novel Mutation of the PCSK1 Gene with Surprising Enzymatic Consequences Causes Proprotein Convertase 1/3 Deficiency and Consequent Endocrinopaties

Abu-Libdeh Abdulsalam , Wilschanski Michael , Abbasi Montaser , Blanco Elias , Lindberg Iris , Yourshaw Michael , Berger Itai , Martin Martin , Elpeleg Orly , Zangen David

Background: Congenital diarrheal disorders (CDDs) are a large group of life-threatening genetic disorders that are frequently difficult to diagnose. We report four siblings from consanguineous kindred with persistent generalized malabsorptive diarrhea hypothyroidism, GH deficiency, intermittent diabetes insipidus, and monogenic obesity.Objective and hypotheses: To find the genetic etiology for the CDD in four cases from consanguineous family using homozy...

hrp0082p1-d1-177 | Perinatal and Neonatal Endocrinology | ESPE2014

Growth and Puberty in Monozygotic Twins with Intra-Twin Birth-Weight Difference

Schulte Sandra , Gohlke Bettina , Bartmann Peter , Prinz Charlotte , Wimmer Lioba , Woelfle Joachim

Background: Low birth weight, unfavourable intrauterine conditions, and post-natal catch-up growth are associated with a subsequent impact on growth and pubertal development. Start of puberty is genetically determined but might be altered due to environmental influences.Objective and hypotheses: In a longitudinal study we observed genetically identical twins with intra-twin birth-weight (bw) differences from birth until puberty.Met...

hrp0082p1-d1-178 | Perinatal and Neonatal Endocrinology | ESPE2014

Pubertal and Adrenal Hormones in Monozygotic Twins with Intra-Twin Birth-Weight Difference

Schulte Sandra , Woelfle Joachim , Bartmann Peter , Hamm Michaela , Stoffel-Wagner Birgit , Schreiner Felix , Gohlke Bettina

Background: Low birth weight, unfavourable intrauterine conditions, and post-natal catch-up growth are associated with a subsequent impact on growth, pubertal development, and metabolic disturbances later in life. Although the start of puberty is genetically determined it might be altered due to environmental influences.Objectives: In a longitudinal study (birth to final height) we observed growth and pubertal development of genetically identical twins b...

hrp0082p1-d1-179 | Perinatal and Neonatal Endocrinology | ESPE2014

Variations in Protein Expression in Small-For-Gestational-Age Newborns

Ruiz-Gonzalez Maria Dolores , Canete Maria Dolores , Gomez-Chaparro Jose Luis , Lopez-Barea Juan Luis , Canete Ramon

Introduction: Small-for-gestionational-age newborns (SGA-NB) may present subsequent comorbidities affecting their metabolism, growth, and development. Analysis of changes in serum proteome profile expression in SGA-NB may provide physiopathological information and help to identify postnatal biomarkers.Aim: To compare serum proteome profiles in SGA vs AGA newborns, stratified by gestational age.Study population and method: The study...

hrp0082p1-d1-180 | Perinatal and Neonatal Endocrinology | ESPE2014

Long-Term Cognitive Effects from Dexamethasone-Treated Pregnancies

Shaytarova Anna , Khramova Elena , Suplotova Lyudmila

Background: In most countries of the world the prenatal glucocorticoid treatment to prevent reproductive losses in hyperandrogenic pregnancies has been found non-efficient. In Russia, up to present, dexamethasone has been listed in the standard threapy of pregnancy noncarrying risk of hyperandrogenic women. Simultaneuously, during the last decade the safety of treating pregnant women with synthetic glucocorticoids has been the subject-matter of intense debates considering poss...

hrp0082p1-d1-181 | Perinatal and Neonatal Endocrinology | ESPE2014

The Prevalence and Outcome of Sex Chromosome Abnormalities Detected Prenatally in Scotland

Lucas-Herald Angela , McGowan Ruth , Cann Fiona , Crawford Lorna , Ahmed Syed Faisal

Background: Prenatal diagnosis (PND) via amniocentesis or chorionic villus sampling may result in the identification of a sex chromosome abnormality, often as an incidental finding.Objective and hypotheses: The aims of this study were to ascertain the prevalence of sex chromosome abnormalities detected by prenatal diagnosis in Scotland and to determine the outcomes for these cases.Method: A retrospective review of all prenatal kary...

hrp0082p1-d1-182 | Perinatal and Neonatal Endocrinology | ESPE2014

Clinical and Histological Heterogeneity of Congenital Hyperinsulinism Due to Paternally Inherited Heterozygous ABCC8/KCNJ11 Mutations

Arya Ved Bhushan , Guemes Maria , Nessa Azizun , Alam Syeda , Shah Pratik , Gilbert Clare , Senniappan Senthil , Flanagan Sarah E , Ellard Sian , Hussain Khalid

Context: Congenital hyperinsulinism (CHI) has two main histological types – diffuse and focal. Diffuse CHI is due to recessive or dominant mutations in ABCC8/KCNJ11. Focal disease is due to somatic maternal allele loss of 11p15 in pancreatic β-cells along with paternally inherited germline ABCC8/KCNJ11 mutation. Fluorine-18 L-3, 4-dihydroxyphenylalanine positron emission tomography computerized tomography (18F DOPA–PET...

hrp0082p1-d1-183 | Perinatal and Neonatal Endocrinology | ESPE2014

Molecular Genetic Analysis of Czech Patients with Congenital Hyperinsulinism: Surprisingly High Incidence of HNF1A Mutations

Rozenkova Klara , Dusatkova Lenka , Dusatkova Petra , Kytnarova Jitka , Obermannova Barbora , Rypackova Blanka , Sumnik Zdenek , Lebl Jan , Cinek Ondrej , Pruhova Stepanka

Background: Congenital hyperinsulinism of infancy represents a group of heterogeneous disorders characterized by over-secretion of insulin from pancreatic β cells causing severe hypoglycemia. Genetically, congenital hyperinsulinism is caused by defects in key genes regulating insulin secretion (ABCC8, KCNJ11, GLUD1, GCK, HADH, SLC16A1, UCP2, HNF4A, and non-constantly HNF1A). The aim of our pr...

hrp0082p1-d1-184 | Perinatal and Neonatal Endocrinology | ESPE2014

Very Low Birth Weight <1500 g is Associated with Reduced Sex-Typical Behaviour in Childhood

Sankilampi Ulla , Hines Melissa , Lamminmaki Annamarja

Objective: Low birth weight and prematurity are linked to various behavioural outcomes. In addition, preterm (PT) infants show altered maturation of pituitary–gonadal axis, as demonstrated by its pronounced transient activation during the first postnatal months. Given that gonadal steroid hormones shape the basic processes of neural and behavioural sexual differentiation these elevated sex steroids in premature infants might affect the developing brain and alter subsequen...