hrp0089lb-p14 | Late Breaking P1 | ESPE2018

Beta-cell Function in Chinese Youngsters with Type 1 Diabetes and Assessment of Surrogate Markers of Severe Insulin Deficiency

Yuan Jinna , Derraik Jose G B , Fu Junfen , Dong Guanping , Cutfield Wayne S , Wu Wei , Huang Ke , Jiang Youjun , Chen Xiaochun

Objective: We assessed whether beta-cell function progressively decreases over time with greater type 1 diabetes mellitus (T1DM) duration using a mixed-meal tolerance test (MMTT). We also assessed simpler and more practical surrogate parameters for clinical use.Methods: We studied 57 children and adolescents with T1DM in Hangzhou (China), mean age at diagnosis was 8.3 years (range 2.3 to 15.3 years), with an average diabetes duration of 2.5 years (range ...

hrp0082fc6.5 | Gonads & DSD | ESPE2014

Serum Levels of AMH Reflect Ovarian Morphology by MRI in 109 Healthy Peripubertal Girls

Hagen Casper P , Mouritsen Annette , Mieritz Mikkel G , Tinggaard Jeanette , Wohlfart-Veje Christine , Fallentin Eva , Anderson Richard A , Main Katharina M , Juul Anders

Background: In adult women, serum levels of AMH reflect both the number of small growing follicles and remaining primordial follicles. AMH levels range 15 fold between healthy girls. Interpretation of AMH is contentious due to minor intra-individual changes around time of pubertal onset despite continuous loss of primordial follicles.Objective and Hypotheses: To describe ovarian morphology (volume, follicles) in healthy girls and adolescents in relation ...

hrp0082p1-d1-138 | Growth | ESPE2014

A Novel Homozygous Mutation of the IGF1 Receptor Gene (igf1r) in Two Siblings with Severe Short Stature, Intellectual Disability, Congenital Malformations, and Deafness

Maystadt Isabelle , Andrew Shayne F , De Schepper Jean , Wauters Nathalie , Mortier Geert , Benoit Valerie , Joset Pascal , Oneda Beatrice , Rosenfeld Ron G , Rauch Anita , Hwa Vivian

Background: Heterozygous mutations in the IGF1 receptor (IGF1R) are often associated with congenital IGF1 resistance, causing variable degrees of intrauterine growth retardation (IUGR) and postnatal short stature. To date, only one homozygous IGF1R mutation has been reported, in a child presenting with severe growth failure, mild intellectual impairment, microcephaly, dysmorphic features, and cardiac malformations.Objective: We now repo...

hrp0082p1-d3-171 | Growth (2) | ESPE2014

Safety and Efficacy Results of a 6 Month, Randomized, Multi-Center Trial of a Novel Long-Acting rhGH (VRS-317) in Naïve to Treatment, Pre-Pubertal Children with GH Deficiency

Bright George M , Moore Wayne V , Nguyen H Q , Kletter Gad B , Miller Bradley S , Rogers Douglas G , Humphriss Eric , Cleland Jeffrey

Background: VRS-317, a novel fusion protein of rhGH, was safe and well tolerated in single dose studies of adults and children with growth harmone deficiency (GHD).Objectives: Conduct a 6-month study to determine the safety, tolerability, height velocity and IGF1 response in GHD children.Methods: 64 subjects were randomized into three arms to evaluate monthly, semi-monthly and weekly dosing.Results: At VRS-31...

hrp0084fc4.2 | Growth | ESPE2015

A Recurrent Homozygous NDUFB3 Mutation, p.Trp22Arg Causes a Short Stature Disorder and Mitochondrial Protein Complex I Deficiency with a Variable Metabolic Phenotype

Murray Philip G , Alston Charlottle L , He Langping , McFarland Robert , Shield Julian PH , Morris Andrew A M , Crushell Ellen , Hughes Joanne , Taylor Robert W , Clayton Peter E

Background: Many children with short stature (defined as height SDS <−2S.D.) have no identified cause for their growth impairment and are classified as either small for gestational age or idiopathic short stature depending on birth size. Whole exome sequencing (WES) is a useful tool to identify new genetic diagnoses in this group. Here we describe a recurrent NDUFB3 mutation in children with intra-uterine growth retardation, short stature and ...

hrp0084p2-181 | Adrenals | ESPE2015

Baseline Cortisol Concentrations Predict Positively and Negatively Anti- and Pro- Oxidation, Respectively that are Measured Following an Acute Aerobic Exercise Bout in Pre- and Early Pubertal Normal-Weight and Obese Boys

Paltoglou George , Papagianni Maria , Fatouros Ioannis G. , Mantzou Aimilia , Jamurtas Athanasios , Avloniti Alexandra , Stefanaki Charikleia , Kanaka-Gantenbein Christina , Chrousos George P. , Mastorakos George

Background: Little data exist regarding the hypothalamic-pituitary-adrenal (HPA) axis activation and the interplay between the HPA axis and markers of pro- and anti-oxidation in children, following an acute aerobic exercise bout in children.Objective and hypotheses: To investigate the changes of HPA axis hormones following an acute bout of aerobic exercise and their respective association with markers of pro- and anti- oxidation in normal weight and obes...

hrp0084p2-256 | Diabetes | ESPE2015

Exposure to Phthalates and Phenols in Relation to Gestational Blood Glucose Homeostasis

Fisher Benjamin G. , Frederiksen Hanne , Andersson Anna-Maria , Juul Anders , Thankamony Ajay , Ong Ken K. , Dunger David B. , Hughes Ieuan A. , Acerini Carlo L.

Background: Endocrine disrupting chemicals (EDCs), such as phthalates and bisphenol A (BPA), have been associated with insulin resistance (IR) and type 2 diabetes (T2D) in non-pregnant adults. By contrast, recent pilot studies of pregnant women found negative associations between phthalates and blood glucose, and a lack of association with BPA. No studies have examined gestational IR or secretion in relation to EDC exposure.Objective: To confirm these re...

hrp0084p2-270 | Diabetes | ESPE2015

Growth and Endocrinopathy in Wolfram Syndrome: The Experience of a Nationally Commissioned Specialist Clinic

Kershaw Melanie , Gleeson Susan , Williams Denise , Gupta Rajat , Ainsworth John , Kulkarni Archana , McCarthy Liam , MacPherson Lesley , Bates Rachel , McGee Marie , Barrett Timothy G

Background: Wolfram syndrome (WS) is a monogenic disorder associated with diabetes mellitus (DM), optic atrophy, diabetes insipidus (DI), neurological deterioration and deafness. Growth has been poorly characterised in case series.Objective and hypotheses: To determine growth and prevalence of endocrine disorders, qualify therapies and metabolic outcome for DM, and relationship of cranial MRI findings to clinical findings in children and young people (CY...

hrp0084p2-330 | Fat | ESPE2015

Abdominal fat Distribution Measured by Magnetic Resonance Imaging in 197 Children Aged 10–15 Years – Correlation to Anthropometry and Dual X-Ray Absorptiometry

Tinggaard Jeanette , Hagen Casper P , Mouritsen Annette , Mieritz Mikkel G , Wohlfahrt-Veje Christine , Fallentin Eva , Larsen Rasmus , Christensen Anders N , Jensen Rikke B , Juul Anders , Main Katharina

Background: Obesity in childhood is defined by age- and sex-specific BMI cut-off values. However, BMI does not disclose the distribution of fat mass. Increased abdominal adipose tissue is associated with a higher risk of cardio-metabolic disease in adulthood. Thus, precise measurements of abdominal adipose tissue in children may enable early prevention of disease.Objective and hypotheses: To validate measurements of abdominal adipose tissue by anthropome...

hrp0084p3-1254 | Programming &amp; Misc. | ESPE2015

Untargeted Plasma Metabolomics in Prepubertal ICSI and Naturally Conceived Children Unravels Gender: Dimorphic Metabolic Trajectories After ICSI

Gkourogianni Alexandra , Telonis Aristeidis G , Kosteria Ioanna , Margeli Alexandra , Mantzou Emilia , Konsta Maria , Loutradis Dimitrios , Mastorakos George , Papassotiriou Ioannis , Kanaka-Gantenbein Christina , Klapa MariaI , Chrousos George P

Background: ICSI is an assisted reproduction technique (ART) mainly used to overcome male infertility. Nowadays, ICSI is employed frequently due to its high success rate, despite it being highly invasive (i.e. epigenetic risk). Recent studies in ART offspring show a higher incidence of cardio-metabolic risk than in naturally-conceived (NC) controls. Thus, in our prior untargeted metabolomic study between ICSI and NC prepubertal girls, we demonstrated insulin resistance in the ...