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 ...

hrp0084p3-770 | Diabetes | ESPE2015

Particularités de la prise en charge du diabète Type 1 chez des enfants dont la révélation est survenue avant l’âge de five ans

Wafaa Mazari , Khadidja Bouriche , Djawida Senouci , Yasmine Zerga , Snaa Chiali , Salih Bendeddouche

Introduction: Le diabète de type 1 est l’endocrinopathie la plus fréquente chez l’enfant. Son incidence est en nette progression dans le monde. L’enfant diabétique nécessite une hygiène de vie adaptée et le suivi par une équipe pluridisciplinaire composée de pédiatre spécialiste en diabétologie, psychologue, diététicien, infirmier spécialisé.Objectif: Determiner les...

hrp0084p3-804 | DSD | ESPE2015

A Practical and Integrative Approach to Differential Diagnosis between 46,XY Disorder of Sexual Development

Karaoglan Murat , Keskin Mehmet , Ozkur Ayhan , Keskin Ozlem

Introduction: 46,XY disorder of sexual development can cause clinical spectrum varying from complete female phenotype to isolated micropenis. However, the most common reasons are androgen synthesis and resistance, choromosome abnormalities, testicular dysgenesis, steroid synthesis defects, it is usually idiopathic. The accurate and differential diagnosis is crucial in respect of treatment, monitoring, sex determination, surgical correction. Moreover, it sometimes can be medica...

hrp0084p3-888 | Fat | ESPE2015

Weight and the Factors Influencing it in a Cohort of School Aged Children

Pop Raluca , Capraru Oana , Pascanu Ionela

Background: Weight disturbances in children are an important problem, both underweight and obesity having important health consequences. There is an ongoing debate about their cause, the risk factors involved and the need for public health policies focused on their prevention.Objective and hypotheses: The aim of this study was to estimate the prevalence of weight disturbances in a cohort of school-aged children and to analyse some factors considered to p...