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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

hrp0084p1-100 | Perinatal | ESPE2015

Atypical Features in Patients with Leprechaunism Suggesting a Wide Clinical Spectrum of Disease

Katugampola Harshini , Improda Nicola , Shah Pratik , Gordon Hannah , Amin Rakesh , Peters Catherine J , Semple Robert K , Dattani Mehul T

Background: Donohue syndrome (DS) is the most severe form of insulin-resistance due to autosomal recessive mutations in the insulin receptor gene. Typical features include pre-/postnatal growth impairment, hyperinsulinaemic hyperglycaemia with fasting hypoglycaemia, nephrocalcinosis, recurrent sepsis, little adipose tissue, soft tissue overgrowth, hirsutism, acanthosis nigricans and facial dysmorphism. However, additional comorbidities may be present, affecting prognosis.<...

hrp0084p1-101 | Perinatal | ESPE2015

Does Type 1 Childhood Diabetes Start In Utero?

Laron Zvi , Hampe Christiane , Shulman Lester

Background: In the last decades a rapid increase in the incidence of childhood type I diabetes (TIDM) has been reported worldwide. To stop the progressively advancing process immunosuppressive and nutritional trials have been made, but failed. Epidemiological studies by our group performed in several countries have shown that the season during which children who developed TIDM were born differed from that in the general population; suggesting that the initial trigger for TIDM ...

hrp0084p1-102 | Perinatal | ESPE2015

The Role of HNF1B in Human Pancreas Development and Diabetes

El Khairi Ranna , Hattersley Andrew , Vallier Ludovic

Background: Diabetes mellitus is a heterogeneous disorder with multiple aetiologies. Monogenic diabetes accounts for an estimated 2–5% of cases and is often associated with impaired pancreas development and β-cell dysfunction. Heterozygous mutations in the transcription factor, HNF1B, result in multi-system disease including diabetes due to β-cell dysfunction, hepatic insulin resistance and pancreatic hypoplasia. However, the mechanisms that underlie development...

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...

hrp0084p1-105 | Perinatal | ESPE2015

Fluoxetine Induced Hypoglycaemia in a Patient with Congenital Hyperinsulinism on Lanreotide Therapy

Giri Dinesh , Yung Zoe , Stirrup Kelly , Didi Mo , Seniappan Senthil

Background: Lanreotide is a long acting somatostatin analogue that has been used successfully in the treatment of congenital hyperinsulinism (CHI) in patients who are unresponsive or intolerant to diazoxide. Antidepressant drugs are reported to cause alterations in blood glucose homeostasis in adults with diabetes mellitus. We report a patient with persistent CHI on Lanreotide therapy, who developed recurrent hypoglycaemia following Fluoxetine therapy.Ca...

hrp0084p1-106 | Perinatal | ESPE2015

Influence of Nocturnal Glycaemia on Ventricular Repolarisation and Heart Rate Variability in Prepubertal Children with Type 1 Diabetes

Saade Marie-Beatrice , Pecquet Aurelien , Pladys Patrick , Beuchee Alain , Pele Fabienne , Nivot Sylvie , de Kerdanet Marc

Background: ‘Dead in Bed syndrome’ mechanism in childhood diabetes remains unknown. The hypothesis is that a nocturnal hypoglycaemia could lead to arrhythmias related to abnormal ventricular repolarisation.Objective and hypotheses: To look for a relationship between spontaneous fluctuations of nocturnal glycaemia, ventricular repolarization and heart rate variability (HRV) in prepubertal children with type 1 diabetes.Meth...

hrp0084p1-107 | Perinatal | ESPE2015

Changes in Serum Protein Expression in Small-for-Gestational-Age Newborn Infants at Different Gestational Ages

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

Background: Small-for-gestational-age (SGA) newborn infants (NB) may present long-term comorbidities influencing their metabolism, growth and/or development. Although their serum proteome is unknown, altered expression of the proteome profile may provide information on their physiopathology and lead to the discovery of biomarkers for postnatal complications.Aim: To detect changes in the serum proteome in SGA-NB vs adequate-for-gestational-age (AGA) newbo...

hrp0084p1-108 | Perinatal | ESPE2015

Liver ER Stress and Intrauterine Growth Retardation in Rats

Deodati Annalisa , Argemi Josepmaria , Puglianiello Antonella , Germani Daniela , Ferrero Roberto , Aragon Tomas , Cianfarani Stefano

Background: Endoplasmic reticulum (ER) is the site where proteins are folded. Perturbation of ER homeostasis activates a set of ER-to-nucleus signaling reactions known as the unfolded protein response (UPR). Metabolic stress causes UPR activation which contributes to the development of insulin resistance and metabolic syndrome. As UPR can be activated by nutrient and oxygen starvation, we postulated that intrauterine growth restriction may trigger UPR signaling and thereby con...

hrp0084p1-109 | Perinatal | ESPE2015

Continuous Subcutaneous Infusion of Recombinant LH and FSH During Early Infancy Promotes Testicular Descent in Congenital Hypogonadotropic Hypogonadism

Lambert Anne Sophie , Lucchini Philippe , Bouvattier Claire , Bougneres Pierre

Context: Cryptorchidism, a common consequence of HH, is treated with orchiopexy. We previously observed that continuous subcutaneous infusion of gonadotropins restored normal serum testosterone and inhibin B concentrations in two infants with hypogonadotropic hypogonadism (HH) and was associated with testicular descent in one.Objective: Test if subcutaneous gonadotropin infusion within the first year of life can allow testicular descent in eight boys wit...

hrp0084p1-110 | Perinatal | ESPE2015

Neonatal Screening Program for Central Congenital Hypothyroidism

Braslavsky Debora , Prieto Laura , Keselman Ana , de Papendieck Laura Gruneiro , Enacan Rosa , Mendez Virginia , Bergada Ignacio , Chiesa Ana

Background: Congenital hypothyroidism (CH) comprises a heterogeneous group of disorders that includes diseases of the hypothalamo-hypophyseal system. The latter are missed on TSH based screening programs leading to increased morbidity and mortality. Additional T4 determinations, allows an early detection of CH of central origin (CH-C).Objective and hypotheses: To report the findings of a neonatal screening program based on determination of TSH...