Previous issue | Volume 84 | ESPE2015 | Next issue

54th Annual ESPE

Barcelona, Spain
01 Oct 2015 - 03 Oct 2015

Card image cap
Barcelona, Spain; 1-3 October 2015 Further information

Free Communications

Late Breaking Abstracts

hrp0084fc-lb-1 | Late Breaking Abstracts | ESPE2015

RNA Sequencing Reveals the Pathways Perturbed by Redox Imbalance in Nicotinamide Nucleotide Transhydrogenase Null Mice

Meimaridou Eirini , Goldsworthy Michelle , Chortis Vasileios , Foster Paul , Arlt Wiebke , Cox Roger , Metherell Louise

Background: In humans, loss-of-function mutations in Nicotinamide nucleotide transhydrogenase (NNT) cause familial glucocorticoid deficiency, a potentially fatal, adrenal-specific disorder characterized by increased ACTH and reduced cortisol levels. NNT is a highly conserved inner mitochondrial membrane protein, which supplies high concentrations of NADPH for detoxification of reactive oxygen species (ROS) by glutathione and thioredoxin pathways.<p class="abstext"...

hrp0084fc-lb-2 | Late Breaking Abstracts | ESPE2015

Loss of Neuronal Dmxl2 Impairs the Maturation and the Activation of GnRH Neurons: a New Mechanism of GnRH Deficiency

Harbulot Carole , Tata Brooke , Jacquier Sandrine , De Roux Nicolas

Background: DMXL2 haploinsufficiency in humans was recently shown to cause the polyendocrine-polyneuropathia syndrome including a GnRH deficiency (OMIM #616113). The neuronal deletion of Dmxl2 in mice (Nes::Cre;Dmxl2loxp/wt) caused infertility and gonadotropic deficiency (Plos Biology 9 e1001952, 2014). Dmxl2 encodes rabconnectin-3α (rbcn-3α), which participates in the control of the V-ATPase activity an...

hrp0084fc-lb-3 | Late Breaking Abstracts | ESPE2015

Pharmacokinetic and Pharmacodynamic Studies of Topicon™ Mediated Patch Delivery of Insulin Glargine in a Streptozotocin-Induced Hairless Rat Model

Hsu Stephen , Mangleburg Carl , Yao Hua

Background: The Topicon™ patch is a needle-free novel platform technology developed to achieve truly passive transdermal delivery of insulin. Here we report pharmacodynamic (PD) and pharmacokinetic (PK) studies comparing needle injection (s.c.) vs Topicon™ mediated patch delivery of the insulin analog glargine (LANTUS®) in streptozotocin-induced hairless rats.Objective and hypotheses: We sought to develop a convenient, af...

hrp0084fc-lb-4 | Late Breaking Abstracts | ESPE2015

Long-Term Cognitive Effects of Antenatal Dexamethasone Treatment in Swedish Adolescents with and without CAH

Wallensteen Lena , Zimmermann Marius , Sandberg Malin Thomsen , Nordenstrom Anna , Hirviskoski Tatja , Lajic Svetlana

Background: In order to prevent virilization in CAH female fetuses, physicians have during the last thirty years used the synthetic glucocorticoid dexamethasone (DEX) as a therapeutic approach administered during early pregnancy. Due to the fact that treatment has to be started before the genotype of the fetus is known, seven out of eight treated fetuses will be subjected to high doses of DEX during early embryogenesis without benefit. Therefore, negative side effects cannot b...

hrp0084fc-lb-5 | Late Breaking Abstracts | ESPE2015

Paternally Inherited IGF2 Mutation Results in Intrauterine and Postnatal Growth Retardation

Begemann Matthias , Zirn Birgit , Santen Gijs , Wirthgen Elisa , Soellner Lukas , Buttel Hans-Martin , Schweizer Roland , van Workum Wilbert , Eggermann Thomas , Binder Gerhard

Background: IGF1 and IGF2 are major regulators of somatic growth acting mainly through the IGF1R. Variants in IGF1 and in IGF1R were identified to cause intrauterine and postnatal growth retardation but variants in IGF2 have not yet been reported.Method: In a multigenerational family four affected members (two siblings, one first degree cousin and the daughter of one sibling) exhibited severe growth retardation with heights between −4.2 and −...

hrp0084fc-lb-6 | Late Breaking Abstracts | ESPE2015

PROP1 Mutations Cause Hypopituitarism by Disrupting the Transition of Pituitary Stem Cells to Differentiation

Millan Maria Ines Perez , Mortensen Amanda , Brinkmeier Michelle , Camper Sally

Background: Congenital multiple pituitary hormone deficiency (MPHD) arises from defects in pituitary development and is sometimes associated with craniofacial abnormalities. Mutations in the transcription factor PROP1 are the most common known genetic cause of the disorder. In this case the course of disease is progressive, and can lead to life threatening adrenal insufficiency.Objective and hypotheses: Our objective is to understand the role of PROP1 in...