hrp0086p2-p522 | Fat Metabolism and Obesity P2 | ESPE2016

The Effect of Demographic and Lifestyle Factors on One-year BMI Increments in 776 Norwegian Children Aged 6–15 Years

Kristiansen Hege , Roelants Mathieu , Bjerknes Robert , Juliusson Petur

Background: There is limited information on the ability of demographic or lifestyle factors to predict short term changes in weight status during childhood.Objective and hypotheses: To study the effect of parental (educational level, BMI status and perception of child’s weight status) and childhood factors (eating habits, sedentary behaviour and physical activity), on 1-year BMI increments by the use of BMI, BMI SDS and BMI SDS conditional gain....

hrp0082p2-d1-283 | Bone | ESPE2014

Hypophosphatemic Rickets in Norwegian Children: Genotypes, Phenotypes, and Complications

Rafaelsen Silje , Raeder Helge , Johansson Stefan , Bjerknes Robert

Background: Hereditary hypophosphatemic rickets (HR) is a group of rare diseases with disordered phosphate metabolism. The Norwegian cohort of HR patients has not previously been described.Objective and hypotheses: The aim of the study was to characterize the genotype, phenotype, and complications to treatment in a national cohort of Norwegian children HR.Method: For assessment of genotype, Sanger sequencing of PHEX, FGF23, DMP...

hrp0089p2-p312 | Pituitary, Neuroendocrinology and Puberty P2 | ESPE2018

Ultrasound Assessment of Pubertal Breast Development: Intra- and Inter-Observer Agreement

Bruserud Ingvild , Mathieu Roelants , Oehme Ninnie , Egil Eide Geir , Bjerknes Robert , Rosendahl Karen , Juiliusson Petur

Background: Clinical assessment of pubertal breast development using Tanner staging is subjective. This has led to the introduction of ultrasound, aiming for a more objective analysis. However, information regarding its reliability is lacking.Objective: To examine intra- and inter-observer agreement of breast maturity staging using ultrasound, and to examine the precision of direct measurements of the gland.Materials and methods: F...

hrp0082p2-d3-391 | Fat Metabolism & Obesity (2) | ESPE2014

The Relationship Between Weight-Related Anthropometric Parameters and Menarche in Norwegian Girls

Bratke Heiko , Brannsether Bente Ellingsen , Aszmus Jorg , Bjerknes Robert , Juliusson Petur B

Aim: A decline in the age at menarche has been reported in recent years in several well-off populations. The prevalence of childhood overweight and obesity has increased during the last decades with some levelling off during the last years. The aim of the present study was to study the association between parameters of overweight and menarche in Norway.Material: Cross-sectional data from The Bergen Growth Study, collected in 2003–2006 from 4016 girl...

hrp0082p2-d2-464 | Growth (1) | ESPE2014

Interrelationships Between BMI and Other Overweight Related Anthropometric Variables in Childhood

Brannsether Bente , Eide Geir Egil , Roelants Mathieu , Bjerknes Robert , Juliusson Petur Benedikt

Background: Anthropometry is the general tool for defining overweight and obesity, with BMI cut-offs adjusted for sex and age, as the most commonly used variable in childhood.Objective and hypotheses: Based on the interrelationships between BMI and different overweight-related anthropometric variables we wanted to find out which anthropometric variables contribute most to the variation in BMI, and how age affect this picture?Method...

hrp0089p2-p304 | Pituitary, Neuroendocrinology and Puberty P2 | ESPE2018

Ultrasound-Based Measurements of Testicular Volume in 6–16 Year Old Boys: Intra- and Inter-Observer Agreement and Comparison with Prader Orchidometry

Oehme Ninnie , Roelants Mathieu , Bruserud Ingvild Saervold , Egil Eide Geir , Bjerknes Robert , Rosendahl Karen , Juliusson Petur B

Background: Prader orchidometry has been the standard method for evaluating testicular size. As this technique is subjective and tends to overestimate the testicular volume, ultrasound has been proposed as a more reliable method.Objective: To evaluate the intra- and inter-observer agreement of ultrasound measurements of testicular volume and comparison with Prader orchidometry.Materials and methods: Length, width and depth of the r...

hrp0092p1-110 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

References for Testicular Volume Measured by Ultrasound and for Pubic Hair in 6-16 Year-Old Norwegian Boys

Oehme Ninnie B. , Roelants Mathieu , Bruserud Ingvild S. , Madsen André , Eide Geir Egil , Bjerknes Robert , Rosendahl Karen , Júlíusson Pétur B.

Objective: Recent studies have suggested earlier onset of pubertal development in boys. As assessment with orchidometer tends to overestimate true testicular volume (TV), and measurements based on ultrasound (US) have been proposed as a more reliable method, we present US based references in 6-16 year-old Norwegian boys. Our results are compared with data from Europe and the United States (U.S.) in order to establish evidence for an ongoing secular trend in ma...

hrp0086pl4 | Genomic imprinting and evolution | ESPE2016

“Genomic Imprinting and Evolution”

Feil Robert

Genomic imprinting in mammals is controlled by DNA methylation. This essential epigenetic phenomenon mediates the mono-allelic expression of about hundred autosomal protein-coding genes and hundreds of regulatory non-coding RNAs, such that these become expressed from one of the two parental alleles only. Although the first imprinted genes were discovered less than thirty years ago, given their key roles in fetal development, homeostasis and brain functions, these exceptional g...

hrp0089p3-p119 | Diabetes & Insulin P3 | ESPE2018

A Rare Cause of Severe Anemia in a Patient with Type 1 Diabetes

Piekarski Robert , Bury Anna , Beń-Skowronek Iwona

Introduction: Anemia in children is still quite common, sometimes it is a secondary symptom of another rare disorder. Rendu-Osler-Weber disease, a genetically determined haemorrhagic diathesis, is characterized by the occurrence of vascular malformations leading to bleeding from the nose, skin and mucous membranes and to various internal organs. Diagnosis facilitates the occurrence of the disease in relatives of the first degree, however, due to the progressive nature of vascu...

hrp0082p3-d3-805 | Gonads and Gynaecology | ESPE2014

The Genotypic and Phenotypic Variability of Mixed Gonadal Dysgenesis

Grimbly Chelsey , Couch Robert , Girgis Rose

Background: Mixed gonadal dysgenesis is most commonly associated with 45,XO/46,XY karyotype.Objective and hypotheses: We report three cases that illustrate the genotype and phenotype variability of mixed gonadal dysgenesis.Methods: Data was extracted from Pediatric Endocrinology charts in a tertiary care centre after consenting the parents.Results: i) A 13 year old patient, 45,XO/46,X, isodicentric Y chromoso...