hrp0086rfc6.6 | Syndromes: Mechanisms and Management | ESPE2016

Growth Hormone (GH) Deficiency Type II: Clinical and Molecular Evidence of Impaired Regulated GH Secretion Due to an Gln181Arg GH-1 Gene Mutation

Miletta Maria Consolata , Eble Andree , Arnhold Ivo J P , Dauber Andrew , Fluck Christa , Pandey Amit

Background: Main features of the autosomal dominant form of GH deficiency (IGHD II) include markedly reduced secretion of GH combined with low concentrations of IGF-I leading to short stature.Objective and hypotheses: We report on a girl referred for assessment of short stature (−4.6 SDS) at a chronological age of 7 yr 10 mo. The GH deficiency was confirmed by standard GH provocation tests, which revealed severely reduced GH and IGF-I concentration...

hrp0089p1-p141 | GH & IGFs P1 | ESPE2018

Autosomal Dominant Growth Hormone Deficiency due to a Novel c.178G>A Mutation in the GH1 Gene Causing Instability of the Mutant GH Protein (p.Ala34Thr)

Miller Bradley , Tan Jimmy , Parween Shaheena , Eble Andree , Ternand Christine , Gregory Louise , Dattani Mehul , Pandey Amit

Background: The most frequent cause of familial growth hormone deficiency (GHD) is Type II autosomal dominant GHD (isolated GHD type II) due to several heterozygous GH1 mutations.Method: Genomic DNA from patients with familial GHD was enriched for the coding exons using hybrid capture technology and GH1 was sequenced using Next Generation Sequencing technology. Plasmids containing genes for WT and A34T GH1 were transfected into NCI HEK2...

hrp0082p1-d3-188 | Pituitary | ESPE2014

Butyrate Stimulates GH Secretion From Rat Anterior Pituitary Cells Via the G-Protein-Coupled Receptors GPR41 and 43

Miletta Maria Consolata , Petkovic Vibor , Eble Andree , Ammann Roland , Fluck Christa E , Mullis Primus E

Background: Butyrate is a short-chain fatty acid closely related to the ketone body β-hydroxybutyrate (BHB) considered as the major source of energy during prolonged exercise. During fasting, when the liver switches to fatty acid oxidation, a rise in serum GH occurs concomitantly with the accumulation of BHB and short chain fatty acids (SCFA) acetate, propionate and butyrate. Interactions between GH, ketone body and SCFA during the metabolic adaptation to fasting are poor...

hrp0089s1.3 | Recent developments in the understanding of Hypothalamo-pituitary disorders | ESPE2018

A Novel Role for Vasopressin in Parenting

Bendesky Andres

The extent and quality of parental care that children receive greatly influences their development, impacting their physical and psychological growth, their educational and social achievement, and their disease risk as both children and adults. It is thus remarkable that around 25% of children are physically abused worldwide. Parenting is a complex behavior, and we still know little about the causes and mechanisms by which people differ in their parental behaviors. To learn mo...

hrp0094s6.2 | Bone Formation: The Growth Plate and Beyond | ESPE2021

Growth Plate: New insights in the origin and function of the growth plate

Chagin Andrei ,

Epiphyseal growth plates, tiny cartilage discs located to the end of long bones, are necessary for longitudinal growth of the skeleton. When and why these structures appeared as individual organs was not very clear until recently. Bringing together an evolutionary approach with comparative analysis, mathematical modelling and both physical and biological experiments allowed to reveal that spatial allocation of the growth plate reduces mechanical stresses within the structure, ...

hrp0094mte4 | Cystic Fibrosis-related diabetes | ESPE2021

Cystic Fibrosis-related diabetes

Kelly Andrea ,

Emerging in childhood and becoming increasingly prevalent to affect 40-50% of adults with cystic fibrosis (CF), CF-related diabetes (CFRD) is a common co-morbidity with the potential to negatively impact nutritional status, pulmonary function, and survival. Stymying interventions to preserve beta-cell function, the mechanisms underlying the progressive insulin secretion defects responsible for CFRD are poorly delineated. This meet-the-professor session will use case-based pres...

hrp0089wg7.2 | ESPE Paediatric Endocrine Nurse Specialists and Allied Health Professionals Working Group (PENS) | ESPE2018

Next Generation Nursing: Genomic Competencies for Pediatric Endocrine Nurses

Dwyer Andrew

This presentation provides an overview of genetics relevant to pediatric endocrine nursing practice. A brief genetic primer for nurses will be given followed by discussion of patient and clinician barriers to genetic literacy. Genetic competencies for nursing practice will be reviewed and application will be demonstrated through several pediatric endocrinecase presentations. At completion, participants will be able to incorporate concepts of genetic literacy and apply genetic ...

hrp0086p1-p105 | Bone & Mineral Metabolism P1 | ESPE2016

Effects of Selective GPER-1 Agonist G1 on Bone Growth

Iravani Maryam , Karimian Elham , Chagin Andrei , Savendahl Lars

Background: Abnormal growth is a common problem in children. Some children do not respond to growth hormone therapy and alternative treatments selectively targeting the growth plate are needed. High doses of estrogens induce growth plate closure and stop further growth. However, high-dose estrogen treatment may also have severe side effects, including increased risk of cancer and reduced fertility. The expression of estrogen receptors (ER), including GPER-1, has been demonstra...

hrp0089p3-p018 | Adrenals and HPA Axis P3 | ESPE2018

Adequate Interpretation of Cortisol Levels in Children

Chueca Maria J , Villarreal Maria , Andres Carlos , Berrade Sara , Dura Teodoro , Nova Luiz-Miguel , Rodriguez Pablo

Adrenocortical tumours are a rare disease in the paediatric population, with a higher prevalence in children under 5 years. The aetiology is partially known; in some cases it is related to mutations in the tumour suppressor gene p53 (TP 53). The classical symptoms of the Cushing syndrome are not usually present in children, so we should suspect this disease in children and teenagers with obesity or with slow growth velocity.Methods: We report a case of a...

hrp0094p2-263 | Growth hormone and IGFs | ESPE2021

Pituitary gland volume measured by Magnetic Resonance Imaging as diagnostic predictor of persistent Childhood-onset growth hormone deficiency

Corredor-Andres Beatriz , Walton-Betancourth Sandra , Brain Caroline , Butler Gary , Hindmarsh Peter , Dattani Mehul ,

Introduction: Pituitary imaging is important for the evaluation of hypothalamo-pituitary axis defects in patients diagnosed with childhood-onset growth hormone deficiency (CO-GHD). Published evidence shows that there is a close relationship between structural changes in the pituitary gland and growth hormone deficiency.Aim: To evaluate the relationship between clinical, laboratory and magnetic resonance imaging of the pi...