hrp0089p2-p277 | Growth & Syndromes P2 | ESPE2018

Pulling the Brakes – ‘Catch Down Growth’: A Phenomenon for Achieving Mid-parental Height Centile After Acquired, All-cause, Brain Injury

Kraus Fabian B T , Hindmarsh Peter C , Spoudeas Helen A

Introduction: Of any pituitary dysfunction following brain injury, growth hormone (GH) deficiency (GHD) is the most prevalent. The cut-point for defining GHD has been placed at 7 ng/mL representing optimum test performance. We hypothesised this cut-off may be set too low for genetically taller children with acquired brain injury, notably brain tumours, who demonstrate severe growth failure but repeatedly fail to meet diagnostic thresholds for GH replacement until several centi...

hrp0089p2-p369 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

Assessment of Initial Investigation Requested in Adolescents with Menstrual Disorders

Charamanta Maria , Michala Lina , Drakakis Peter , Yasmin Ephia , Creighton Sarah

Backround: Menstrual disorders are common among the adolescent girls. We examined the initial investigations performed in adolescents, presenting with frequent, heavy or painful periods. Although, usually abnormal uterine bleeding (AUB) in adolescent women is attributable to immaturity of the hypothalamic-pituitary-ovarian axis, underlying conditions such as coagulation disorders and anemia should always kept in mind. However, neither the laboratory nor the ultrasound investig...

hrp0086fc8.1 | Growth: Clinical | ESPE2016

Transcriptomics and Machine Learning Methods Accurately Predict Diagnosis and Severity of Childhood Growth Hormone Deficiency

Murray Philip , Stevens Adam , Koledova Ekaterina , Chatelain Pierre , Clayton Peter

Background: The diagnosis of Growth Hormone Deficiency (GHD) involves the use of GH stimulation tests that require day case admission, multiple blood sampling and are associated with significant adverse effects.Aim: To assess the utility of gene expression (GE) profiling and candidate SNP analysis for the diagnosis of and classification of GHD.Method: Pre-pubertal treatment-naïve children with GHD (n=98) were enrolled from the...

hrp0086fc8.4 | Growth: Clinical | ESPE2016

Genetic Insights from Children with Idiopathic Short Stature in the EPIGROW Study

Perchard Reena , Murray Philip , Payton Anthony , Clayton Peter

Background: EPIGROW was a prospective European epidemio-genetic study in children with idiopathic short stature (ISS).Objectives: To identify (1) differences in frequencies of single nucleotide polymorphisms (SNPs) in growth related genes between ISS children and controls, and (2) associations between growth characteristics, IGF status and SNPs in these genes.Methods: Sequence data from EPIGROW was used to determine the difference ...

hrp0086fc14.6 | Growth : Mechanisms | ESPE2016

In vitro and in vivo Evidence for a Growth Inhibitory Role of the Transcription Factor ZBTB38 Throughout Pre- and Post-Natal Life

Parsons Sam , Stevens Adam , Whatmore Andrew , Murray Philip , Clayton Peter

Background: Single nucleotide polymorphisms (SNPs) within the promotor and 5’UTR of the transcriptional factor, ZBTB38, are associated with adult height and idiopathic short stature although their precise auxological effects have not previously been described. In addition, the molecular mechanisms through which ZBTB38 affects growth have not been fully elucidated but potential downstream mediators are suggested to include MCM10 or IGF2.Objectives: <...

hrp0086rfc14.5 | Growth : Mechanisms | ESPE2016

Gene Expression Profiling of Children with GH Deficiency (GHD) Prior to Treatment with Recombinant Human Growth Hormone (r-hGH) is Associated with Growth Response Over Five Years of Therapy

Stevens Adam , Murray Philip , Koledova Ekaterina , Chatelain Pierre , Clayton Peter

Background: The relationship of pre-treatment gene expression (GE) to long-term growth response in GHD is unknown. Prediction of long-term response to r-hGH therapy would allow better decision making about start and maintenance doses and hence cost:benefit.Objective and hypotheses: To assess the relationship of baseline GE to response to r-hGH over 5 years of therapy in GHD children.Method: Pre-pubertal children with GHD (n</em...

hrp0086p1-p564 | Perinatal Endocrinology P1 | ESPE2016

Long-Term Effects of Differences in Fetal Environment: Endocrine Influences on Cognitive Function and Personality in Teen Monozygotic Twins

Wimmer Lioba , Woelfle Joachim , Schulte Sandra , Bartmann Peter , Gohlke Bettina

Background: Low birth weight and unfavourable intrauterine conditions are associated with long-term effects on life.Objective and hypotheses: In a longitudinal study, we followed genetically identical twins with intra-twin birth-weight (bw) differences due to twin–twin transfusion syndrome from birth until after puberty. We propose that differences in birth weight lead to differences in hormone levels with effects on personality and cognitive functi...

hrp0082fc7.3 | Growth promoting therapies | ESPE2014

Gene Expression Networks Associated with Changes in Serum Markers of Metabolism and Growth in GH-Treated Children with GH Deficiency

Stevens Adam , De Leonibus Chiara , Chatelain Pierre , Clayton Peter

Introduction: Growth promoting effects of GH occur in parallel with its impact on insulin sensitivity and lipid metabolism; underlying biological networks that link these actions are not defined. Our objective was to identify gene expression (GE) networks linking growth with metabolic responses in GH-treated children with GHD.Methods/design: Pre-pubertal children with GH Deficiency GHD (n=125) were enrolled from the PREDICT short-term (NCT002561...

hrp0082p2-d2-298 | Bone (1) | ESPE2014

Zoledronic Acid for Management of Osteopenia of Prematurity and Associated Ventilator Dependency

White Mary , Pellicano Anastasia , Zacharin Margaret , Simm Peter

Background: The effect of bisphosphonates in patients with severe osteopenia of prematurity is unknown in terms of either fracture prevention or long-term safety. A 6-month-old male infant born at 24+2 weeks gestation was referred for consideration of bisphosphonate therapy in the management of severe osteopenia of prematurity. The neonatal course included chronic lung disease requiring four courses of corticosteroids. Despite optimal calcium, phosphate and vitamin D supplemen...

hrp0082p3-d2-857 | Growth (3) | ESPE2014

Differences in Personality of Monozygotic Twins can be Predicted by Difference in Birth Weight in Teen Monozygotic Twins

Wimmer Lioba , Woelfle Joachim , Bartmann Peter , Schulte Sandra , Gohlke Bettina

Background: Low birth weight and unfavourable intrauterine conditions are associated with long-term effects on life. The influence of intrauterine conditions on personality might be underestimated.Objective and hypotheses: In a longitudinal study we followed genetically identical twins with intra-twin birth-weight (bw) differences due to twin–twin transfusion syndrome (ttts) from birth until puberty.Method: 23 pairs of monozyg...