hrp0084fc5.3 | Endocrine Oncology/Turner | ESPE2015

Screening in Children with Succinate Dehydrogenase B (SDHB) Mutations: a Single Centre’s Family Clinic Experience

Shapiro Lucy , Srirangalingam Umasuthan , McAndrew Lorraine , Martin Lee , Tufton Nicola , Kumar Ajith , Drake William , Akker Scott , Storr Helen

Background: Germline mutations in SDHB gene are associated with the familial paraganglioma (PGL) syndrome that carries the highest malignant potential. Although penetrance is lower than initially described, lack of effective treatments for metastatic PGLs makes screening essential for early tumour detection, surgical removal and improved outcome. However, no consensus exists in relation to timing and mode of screening.Objective: To assess publis...

hrp0089rfc12.2 | Diabetes and Insulin 2 | ESPE2018

Bone Mineral Density is Increased in 276 Danish Children and Adolescents with Type-1-Diabetes

Madsen Jens Otto Broby , Herskin Camilla Winther , Zerahn Bo , Olsen Birthe Susanne , Pociot Flemming , Johannesen Jesper

Objectives: Bone health is affected in Type-1-Diabetis (T1D) causing higher risk of hip fractures, prolonged fracture healing and altered bone mineral density (BMD). In T1D adults BMD is found to be decreased. In this study we have measured the BMD in children and adolescents from the Copenhagen Pediatric T1D Cohort.Methods: 276 children and adolescents (131 girls) were included from the diabetes outpatient clinic at Herlev University Hospital. All patie...

hrp0097p1-16 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Low bone mineral density in children with Cerebral Palsy and its risk factors: finding a way to prevent secondary osteoporosis

Lindblad Pedersen Marianne , Mol Debes Nanette , Engel Høi-Hansen Christina , Johannesen Jesper

Introduction: Children with cerebral palsy (CP) has an increased risk of bone fragility, low areal bone mineral density (aBMD) and low trauma fractures leading to increased pain experience, decreased mobility and lower quality of life.Purpose: The aim of this study was to determine the prevalence of low BMD among children with cerebral palsy in Denmark across the spectrum of gross motor function scale (GMFCS) of I-V and ...

hrp0095p1-228 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Effect of burosumab treatment on phosphate metabolism and bone health in patients with X-linked hypophosphatemic rickets (XLH). Preliminary data within an Italian sample.

Baroncelli Giampiero , Comberiati Pasquale , Rita Sessa Maria , Pelosini Caterina , Grandone Anna , Camodeca Rosanna , Emma Francesco

XLH is the commonest inherited form of rickets. Impaired regulation of fibroblast growth factor 23 (FGF23) due to PHEX gene mutation leads to reduced tubular reabsorption of phosphate (TmP/GFR) and 1,25-dihydroxyvitamin D (1,25(OH)2D) synthesis with hypophosphatemia. Patients show rickets and osteomalacia, bone and muscular pain, stunted growth, and reduced quality of life. We report preliminary data on burosumab therapy in a selected sample of Italian patients.<p class="a...

hrp0095p1-143 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Use of the 100,000 Genomes Project to identify the molecular basis of rare endocrine disorders within a tertiary paediatric endocrinology centre

M McGlacken-Byrne Sinead , Gregory Louise , Roberts Rowenna , Wakeling Emma , Katugampola Harshini , T Dattani Mehul

Introduction: The UK 100,000 Genomes Project (100KGP) recently investigated the genetic basis of rare disease using whole genome sequencing. The genetic aetiology of most rare paediatric endocrine disease remains unexplained.Methods: Children with genetically unexplained rare endocrine disease attending a subspecialist paediatric endocrinology clinic underwent whole genome sequencing as part of the 100KGP. Parental DNA w...

hrp0095p1-186 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Inflammation and polycystic ovary syndrome (PCOS). Utilising proteomic analysis to unravel the link between inflammatory proteins and PCOS in adolescents

Gunn Harriet , Oberg Emma , Hällqvist Jenny , Lindén Hirschberg Angelica , Steinbeck Katharine , Mills Kevin

Background and Methods: PCOS is common in adolescents and imparts a significant health and economic burden. Yet, our understanding of its complex pathogenesis is lacking. Proteomic analyses would be a valuable tool to deepen our knowledge of the biological pathways which underpin PCOS, and to identify novel biomarkers to diagnose and monitor this common condition. Therefore, we undertook a deep phenotyping discovery proteomic profiling (nano-2D-LC-QTOF MSe) on...

hrp0089rfc6.2 | Fat, Metabolism and Obesity | ESPE2018

IGF-I at Four Months Associates to Visceral and Subcutaneous Adipose Tissue at 7 Years of Age

Kjellberg Emma , Roswall Josefine , Andersson Jonathan , Bergman Stefan , Kullberg Joel , Dahlgren Jovanna

Objectives and Study: Insulin-like growth factor I (IGF-I) regulates fetal and infant growth and is influenced by nutrition during infancy. Breast fed children have lower IGF-I levels than formula fed infants and the reason is partly explained by lower levels of protein and higher level of polyunsaturated fatty acids (PUFA) in breast milk compared to formula. Environmental factors, such as nutrition, have long-lasting influences on hormone secretion and on future metabolic hea...

hrp0089p2-p191 | Fetal, Neonatal Endocrinology and Metabolism P2 | ESPE2018

Association between Rubenstein-Taybi Syndrome and Hyperinsulinaemic Hypoglycaemia

El-Khairi Ranna , Destamani Antonia , Clements Emma , Morgan Kate , Hurst Jane , Shah Pratik

Introduction: Rubenstein-Taybi Syndrome (RSTS)is a rare multiple congenital anomaly syndrome with a prevalence of 1:100,000 to 1:125,000. It is classically characterized by postnatal growth deficiency, microcephaly, learning difficulties, increased risk of tumour formation, broad thumbs and halluces and dysmorphic facial features including highly arched eyebrows, long eyelashes, downslanting palpebral fissures, broad nasal bridge, beaked nose, high arched palate and characteri...

hrp0089p1-p173 | Growth &amp; Syndromes P1 | ESPE2018

Clinical and Radiological Manifestations in a Large Swedish Family with a Pathogenic Heterozygous ACAN Variant

Gkourogianni Alexandra , Segerlund Emma , Hallgrimsdottir Sigrun , Nilsson Ola , Stattin Eva-Lena

Objectives: Heterozygous mutations in the aggrecan gene (ACAN) are associated with idiopathic short stature, with or without advanced bone age (BA), osteochondritis dissecans (OCD) and early onset of severe osteoarthritis (OA). Variable features also include midface hypoplasia, brachydactyly, short thumbs and intervertebral disc degenerative disease.Methods: We reviewed 173 radiographs in 22 individuals (8F:14M), (three shoulders, 10 hands, 10 w...

hrp0086p1-p621 | Growth P1 | ESPE2016

Final Height after Growth Hormone Treatment in Children with Chronic Renal Failure

Lonero Antonella , Bizzarri Carla , Delvecchio Maurizio , Emma Francesco , Strologo Luca Dello , Cappa Marco

Background: Growth retardation is seen in about 30% of children with chronic renal failure (CRF). Under-nutrition, anaemia, secondary hyperparathyroidism, acidosis, corticosteroid therapy and abnormalities in the GH/insulin like growth factor system have been implicated. Recombinant GH (rGH) therapy is recommended in children showing failure to maintain a normal height velocity despite optimized primary treatments.Objective and hypotheses: It has been de...