hrp0082p3-d2-973 | Sex Development (1) | ESPE2014

Incidens of Sex Differentione Disorder: 46,XY

Sultanova Shakhrizada , Yakupova Rano

Background: Disorder in formig the sex is a condition associated with the clinical and biochemical manifestation of the discrepancy between genetic, gonadal and phenotypic sex of a child.Clinical case: A girl of 15 years old with complaints about the menses lack.History of the case: Parents are closely related marriage. They are first cousins. There are three children in the family, two of them being healthy. At 13 years of age, th...

hrp0084fc3.1 | Diabetes | ESPE2015

RNA-Based MAFA Over-Expression is Sufficient to Drive Human Pancreatic Duct-Derived Cells Toward a β-Cell-Like Phenotype

Corritore Elisa , Dugnani Erica , Pasquale Valentina , Piemonti Lorenzo , Vetere Amedeo , Bonner-Weir Susan , Sokal Etienne M , Lysy Philippe A

Background: Pancreatic epithelial cells represent an attractive cell source for replacement therapy of type 1 diabetes. Previously, we designed a protocol for expansion of human pancreatic duct-derived cells (HDDCs) and showed their β-cell engineering potential.Objective and hypotheses: In this study, we reprogrammed HDDCs into β-cell-like lineage by over-expressing mRNAs of key pancreatic transcription factors (TFs).Meth...

hrp0084fc5.1 | Endocrine Oncology/Turner | ESPE2015

Resveratrol Potentiates Growth Inhibitory Effects of Rapamycin in PTEN-deficient Lipoma Cells by Suppressing p70S6 Kinase Activity

Leipert Jenny , Kassner Franziska , Schuster Susanne , Handel Norman , Korner Antje , Kiess Wieland , Garten Antje

Background: Patients with PTEN (phosphatase and tensin homolog) hamartoma tumor syndrome and germ line mutations in PTEN frequently develop lipomatosis, for which there is no standard treatment. Rapamycin was shown to reduce the growth of lipoma cells with heterozygous PTEN deficiency in vitro, but concomitantly induced an up regulation of AKT phosphorylation.Objective and hypotheses: Since it was shown that resveratrol stabilizes PTEN,...

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...

hrp0084p1-14 | Bone | ESPE2015

No Secular Trend in Vitamin D Levels Over the Past 30 Years in Swedish Children

Andersson Bjorn , Albertsson-Wikland Kerstin , Swolin-Eide Diana , Magnusson Per

Background: The importance of vitamin D for skeletal health is well established and many recent reports indicate that vitamin D deficiency is linked to chronic diseases. Vitamin D status is defined by serum 25-hydroxyvitamin D (25(OH)D), and although there is no consensus on optimal levels of 25(OH)D concentrations of 50 nmol/l (20 ng/ml) meet the requirements in 97.5% of the population. In Sweden, sun cannot synthesize vitamin D during the winter, therefore supplementation is...

hrp0084p1-64 | DSD | ESPE2015

MAMLD1 Mutations Seem Not Sufficient to Explain a 46, XY DSD Phenotype. What else?

Camats Nuria , Fernandez-Cancio Monica , Audi Laura , Mullis Primus E , Moreno Francisca , Casado Isabel Gonzalez , Lopez-Siguero Juan Pedro , Corripio Raquel , de la Vega Jose Antonio Bermudez , Blanco Jose Antonio , Fluck Christa E

Background: The MAMLD1 gene (Xp28) is thought to cause disorder of sex development (DSD) in 46, XY patients, mostly presenting with hypospadias, and, recently, also gonadal dysgenesis. However, there is some controversy about the role of MAMLD1 in sex development because i) some MAMLD1 variants are also detected in normal individuals, ii) others are not present in all affected DSD individuals of the same family; iii) several MAMLD1 mutations...

hrp0084p1-147 | Miscelleaneous | ESPE2015

A New LC-MS/MS Assay for the Analysis of Sulfated Steroids in Human Serum: Quantification of Cholesterol Sulfate, Pregnenolone Sulfate, 17-Hydroxypregnenolone Sulfate and Androgen Sulfates

Sanchez-Guijo Alberto , Oji Vinzenz , Hartmann Michaela F , Traupe Heiko , Wudy Stefan A

Background: Steroids are found in human blood predominantly as sulfated steroids. Conjugation of steroids increases their solubility in blood, facilitating their physiological regulation and excretion. Chromatographic separation and quantification of an extensive number of sulfated steroids is challenging. For instance, androgen sulfates are structurally related and their signals are very similar in mass spectrometry.Objective and hypotheses: Some of the...

hrp0084p2-473 | Growth | ESPE2015

The Pubertal Gain in Height is Inversely Related to BMI in Childhood

Holmgren Anton , Niklasson Aimon , Nierop Andreas F.M. , Gelander Lars , Aronson A. Stefan , Sjoberg Agneta , Lissner Lauren , Albertsson-Wikland Kerstin

Background: Weight in childhood may influence the pubertal timing and pattern of growth.Objective: To investigate the impact of BMI in childhood on further growth, especially the specific pubertal pattern of growth.Method: The longitudinally followed GrowUpGothenburg1990 birth cohort, was analyzed using the QEPS growth model (Nierop et al. Horm Res in Ped. 2013; 80(suppl 1):152–153) (describi...

hrp0084p3-707 | Diabetes | ESPE2015

A Novel Genetic Mutation in a Turkish Family with GCK-MODY

Ucakturk S Ahmet , Gunindi Figen , Demirel Fatma , Elmaogullari Selin , Mengen Eda , Yuksel Bilgin

Background: Maturity-onset diabetes of the young type 2 (MODY2) is an autosomal dominant inherited disease caused by heterozygous inactivating mutations in the glucokinase (GCK) gene. It mostly presents with mild fasting hyperglycaemia. MODY2 accounts for 2%–5% of all diabetes cases. It is treated with diet only, and complications are extremely rare. We presented here a family with MODY2 caused by a novel heterozygous p.E51*(c.151.G>T) mutation of the GCK gene.<p ...

hrp0084p3-742 | Diabetes | ESPE2015

Coping Styles of Adolescents with Type 1 Diabetes and their Parents: Association with Metabolic Control and Disease Duration

Karachaliou Feneli , Drosatou Chrysa , Kandyla B , Sakou Eirini , Mavri Antonia , Tsitsika Artemis , Karavanaki Kyriaki

Background: Coping skills are very important for the management of developmental changes among young people, and especially so, for adolescents with chronic diseases such as type 1 diabetes (T1DM).Objective and hypotheses: To study the various coping behaviours in a sample of children and adolescents with T1DM and to evaluate their association with metabolic control and duration of disease.Method: The study population consisted of ...