hrp0092p3-16 | Adrenals and HPA Axis | ESPE2019

Pneumocystis Jiroveci Pneumonitis Complicating Neonatal Cushing's Syndrome - the Therapeutic Dilemma

Auerbach Adi , Gillis David , Megged Orly , Shahroor Sarit , Avnon-Ziv Carmit , Hirsch Harry , Levy-Khademi Floris

Background: Endogenous Neonatal Cushing's syndrome (CS) is a rare condition with around 100 cases reported worldwide. Pneumocystis Jiroveci pneumonitis (PJP) is a well described, albeit rare, complication of exogenous CS (i.e. CS resulting from external glucocorticoids). The pneumonitis usually occurs following reduction of glucocorticoid dosage and is therefore thought to be triggered by an inappropriate immune reaction evident after glucocorticoids withd...

hrp0089rfc2.6 | Bone, Growth Plate & Mineral Metabolism 1 | ESPE2018

The Novel R211Q POP1 Homozygous Mutation Causes Severe Short Stature But Uniquely Only Subtle Skeletal Dysplasia

Abdulhadi-Atwan Maha , Klopshtock Tehila , Sharaf Muna , Weinberg-Shokrun Ariella , Levy-Lahad Ephrat , Zangen David

Background: Processing of Precursor 1 (POP1) is a core protein component of the Ribonuclease-Mitochondrial RNA Processing (RNase-MRP) enzymatic complex, an essential complex in all eukaryotes. Mutations in RMRP, encoding the RNA moiety of the complex cause cartilage-hair hypoplasia – anauxetic dysplasia (CHH-AD) spectrum disorders, characterized by severe disproportionate short stature. Recently, five patients harboring mutations in POP1 have been report...

hrp0089rfc3.5 | Diabetes and Insulin 1 | ESPE2018

Recent Secular Change in Pre- and Postnatal Growth and Adiposity in Infants of Mothers with Gestational Diabetes

Olga Laurentya , Prentice Philippa , Hughes Ieuan , Acerini Carlo , Ong Ken , Dunger David

Objective: Typically, infants born to mothers with gestational diabetes mellitus (IOGDM) have greater risks for macrosomia, later obesity and metabolic diseases. However, we have noticed that birth weights of IOGDM have reduced over the last decade even with uniform application of the International Association of Diabetes and Pregnancy Study Group’s (IADPSG) consensus definition. We therefore compared infancy growth outcomes from two IOGDM cohorts born during non-overlapp...

hrp0089p1-p006 | Adrenals and HPA Axis P1 | ESPE2018

Altered DNA Methylation in Peripheral T-cells from Patients with Congenital Adrenal Hyperplasia

Karlsson Leif , Barbaro Michela , Ewing Ewoud , Gomez-Cabrero David , Lajic Svetlana

Background: Patients with Congenital Adrenal Hyperplasia (CAH) are at risk of several co-morbidities, such as impaired cognitive functions, short stature and adverse effects on metabolism. The causes of these effects are suboptimal glucocorticoid replacement therapy, adrenal crises and prenatal glucocorticoid exposure. However, there are no data available to this day how these factors are affecting epigenomic programs.Objective and hypot...

hrp0089p1-p072 | Diabetes & Insulin P1 | ESPE2018

Increasing Use of Continuous Glucose Monitoring (CGM) Among Youth with Type 1 Diabetes (T1D): Icomparison of Youth from the T1D Exchange (T1DX) and the DPV Initiative

Miller Kellee , Hermann Julia , Maahs David , Hofer Sabine , Foster Nicole , Holl Reinhard

Objectives: To assess change in rates of pediatric CGM use over the past 5 years across demographic and clinical characteristics and association with hemoglobin A1c (HbA1c), data from 2 registries were compared: the US-based T1DX and the German/Austrian DPV.Methods: Registry participants in DPV and T1DX aged <18yrs with T1D duration ≥ 1yr with available data in any of the following years were included in the analysis (N for each year by registr...

hrp0089p2-p218 | GH &amp; IGFs P2 | ESPE2018

The Rationale and Design of TransCon GH

Sprogoe Kennett , Beckert Michael , Mortensen Eva , Karpf David B , Leff Jonathan A

Background: The fundamental challenge of developing a long-acting growth hormone (LAGH) is to create a more convenient growth hormone (GH) dosing profile while retaining the excellent safety, efficacy, and tolerability of daily GH. With GH receptors on virtually all cells, replacement therapy should achieve the same tissue distribution and effects of daily (and endogenous) GH while maintaining levels of GH and resulting IGF1 within the physiologic range....

hrp0089p2-p219 | GH &amp; IGFs P2 | ESPE2018

Baseline Demographics of the TransCon GH Phase 3 heiGHt Trial

Beckert Michael , Karpf David B , Shu Aimee , Lin Zhengning , Leff Jonathan A

Background: TransCon GH is a novel sustained-release recombinant human GH (somatropin) prodrug in development for children with GH deficiency (GHD). It is designed to release unmodified GH and intended to provide comparable efficacy, safety, tolerability, and immunogenicity to daily GH with once-weekly dosing. Based on results from a phase 2 trial, which demonstrated comparable efficacy (annualized height velocity for TransCon 0.21 mg GH/kg per week of 12.9 cm/year vs 11.6 cm/...

hrp0089p2-p251 | Growth &amp; Syndromes P2 | ESPE2018

Growth, Body Composition and Metabolic Parameters during Childhood in a Cohort of Children Born with a Small for Gestational Age

Loredana Marcovecchio M. , Gorman Samantha , Murgatroyd Peter , Ong Ken , Dunger David , Beardsall Kathryn

Aims: To examine growth, body composition and glucose metabolism during childhood in children born small for gestational age (SGA).Methods: Single centre cohort study of 150 children (63 boys), identified from newborn records as being born SGA (birth weight SDS <−1.5) and assessed between the age of 4 and 7 years. Data collected included: anthropometric parameters (height, weight, BMI: transformed into age- and sex-adjusted SDS), lean and fat m...

hrp0089p1-p255 | Thyroid P1 | ESPE2018

Patterns of Thyroglobulin Levels in Infants Referred With High TSH on Newborn Screening, Compared with Iodine-sufficient Healthy Controls

Kallali Wafa , Neumann David , Krylova Katerina , Jones Jeremy H. , Smith Karen , Shaikh Guftar , Donaldson Malcolm

Background: Thyroglobulin (Tg) is exclusively synthesised by thyroid tissue and a potentially useful aid to diagnosis in congenital hypothyroidism (CH). However, its role has yet to be fully evaluated.Objective: To examine the sensitivity and specificity of Tg in helping define the etiology of CH.Patients and methods: Tg was measured in a single laboratory by Immulite 2000 chemiluminescent immunometric assay (CVs 9.8, 5.7 and 5.7% ...

hrp0086fc9.5 | Pathophysiology of Disorders of Insulin Secretion | ESPE2016

Evaluation of a Novel Method to Detect Residual ß-Cell Function by Dried Blood Spots in Children and Adolescents with a Recent Diagnosis of Type 1 Diabetes

Willemsen Ruben , Burling Keith , Ackland Fran , Edge Julie , Diaz Renuka , Barker Peter , Guy Catherine , Dunger David

Background: The majority of drug developments in type 1 diabetes (T1D) are aimed at preventing decline of beta cell function (BCF), as this has been associated with better glycaemic control and fewer long-term complications. Traditionally, BCF is evaluated by the C-peptide response to the labour-intensive mixed-meal-tolerance-test (MMTT), but there’s a need for a more practical alternative. We developed a new method to measure C-peptide in ‘dried blood spots’ (D...