hrp0086p2-p771 | Pituitary and Neuroendocrinology P2 | ESPE2016

Compound Heterozygosity for Two Novel POU1F1 Mutations in Siblings with Isolated Childhood Onset Growth Hormone Deficiency (CO-GHD)

Grace Mariana , Nagel Mato , Joyce Caroline , Morissey Rose , O'Connell Susan

Background: CO-GHD can be caused by a variety of aetiologies, including pituitary or brain structural abnormalities, and increasingly recognised genetic mutations of pituitary transcription factors. Idiopathic GHD is a diagnosis of exclusion. POU1FI is a late pituitary transcription factor. Mutations of POU1F1 have autosomal recessive (AR) inheritance, and phenotypically present with a normal or small anterior pituitary gland on magnetic resonance imaging (MRI), they are assoc...

hrp0082p2-d1-284 | Bone | ESPE2014

Increased Fracture Rate in Children and Adolescents with Marfan Syndrome

Trifiro Giuliana , Marelli Susan , Mora Stefano , Pini Alessandro

Background: Marfan syndrome (MFS) is an autosomal dominant disorder of connective tissue. Cardinal features affect cardiovascular system, eyes and skeleton. It is caused by mutations of FBN1 gene, which encodes the extracellular matrix protein fibrillin 1. The improper activation of TGFβ, due to defective fibrillin-1, is the pathophysiological mechanism. The altered modulation leads to overgrowth of long bones (disproportionate stature) and altered bone morphology.<p ...

hrp0082p2-d1-322 | Diabetes | ESPE2014

Quality of Life and Glycaemic Assessment Before and After Pump School

Leahy Patricia , O'Toole Norma , O'Connell Susan , O'Riordan Stephen

Background: Childhood type 1 diabetes (T1DM) is associated with poor quality of life and significant family burden. Children, parents, extended family members and teachers were invited to a novel 2 day structured educational programme, ‘Pump SchooI’, delivered by a Consultant Led multidisciplinary team. Each Pump School included two age-matched children.Objective and hypotheses: To evaluate the effect of continuous s.c. insulin infusion (CSII) ...

hrp0092p1-352 | Fat, Metabolism and Obesity (2) | ESPE2019

Paediatric Patients with Type 1 Diabetes Mellitus Exhibit Reduced Brown Adipose Tissue Heat Signature Following Cold Stimulation

Law James , Morris David E. , Robinson Lindsay , Randell Tabitha , Denvir Louise , Symonds Michael E. , Budge Helen

Brown adipose tissue (BAT) is a key component of the body's defence against cold challenge and possesses the ability to convert large amounts of chemical energy to heat, conferred by a unique protein, uncoupling protein (UCP)-1, diverting mitochondrial respiration from the production of adenosine triphosphate. In humans, the largest BAT depot is in the supraclavicular region. Sympathetic nervous system stimulation induces glucose uptake into brown adipose tissue, as does i...

hrp0089p3-p418 | Pituitary, Neuroendocrinology and Puberty P3 | ESPE2018

Clinical and Endocrinological Manifestations of Partial Ectopic Posterior Pituitary: A New Imaging Entity

Ybarra Marina , Hafiz Rawan , Robinson Marie-Eve , Oettingen Julia von , Bui Helen , Saint-Martin Christine

Objective: To describe six cases of possible partial ectopic posterior pituitary gland (PEPP) seen on head magnetic resonance imaging (MRI) and their associated clinical and endocrinological manifestations.Methods: This is a single-center case series, from a tertiary public university health center in Montreal, Canada. Cases of children with possible PEPP were selected prospectively from 2005 to 2017, based on head MRI findings. Medical history, exam fi...

hrp0095p1-327 | Growth and Syndromes | ESPE2022

A comprehensive assessment of patient-reported outcome measures in children and parents of children with achondroplasia: Results from a qualitative research and mapping exercise.

D. Mathias Susan , Hoover-Fong Julie , Savarirayan Ravi , Crews Chandler , Alves Inês , Noval Susan , Haider Amer , Cho Terry , Lee Anne , H. Colwell Hilary , Muslimova Elena

Objectives: Individuals with achondroplasia (ACH) experience medical, emotional and functional detriments during their lifetime. A comprehensive research initiative was conducted to include combined concept elicitation (CE) and cognitive debriefing (CD) interviews and mapping of concepts to identify the most relevant available patient-reported outcome (PRO) measures for inclusion in studies of ACH.Methods: Combined CE/CD...

hrp0095fc4.3 | Fat, Metabolism and Obesity | ESPE2022

Impaired Brain Satiety Responses by Functional Neuroimaging After Weight Loss Therapy in Children with Obesity

Roth Christian , Melhorn Susan , DeLeon Mary , Rowland Maya , Elfers Clinton , Huang Alyssa , Saelens Brian , Schur Ellen

Background: Obesity interventions often result in increased motivation to eat after weight loss.Objective: We investigated relationships between obesity outcomes and changes in brain activation by visual food cues and hormone levels in response to obesity intervention by family-based behavioral treatment (FBT).Design, Methods, and Participants: Functional neuroimaging and plasma ho...

hrp0089fc3.4 | Diabetes and Insulin 1 | ESPE2018

Is the Glycaemic Response from Fat in Meals Dose Dependent in Children and Adolescents with T1DM on Intensive Insulin Therapy?

O'Connell Susan M. , O'Toole Norma , Cronin Conor , Saat Chen , McElduff Patrick , King Bruce , Smart Carmel E.

Background: Management of people with T1DM on intensive insulin therapy (IIT) uses algorithms based on the meal carbohydrate (CHO) content (MCC) to calculate prandial insulin dose. Typically, these calculations do not consider the meal content of fat or protein.Objective: To determine if the postprandial blood glucose (BG) response to varying fat content is dose dependent when standard insulin bolus is given based on MCC.Methods: R...

hrp0089fc6.2 | Fat, Metabolism and obesity | ESPE2018

Impaired Brain Satiety Responses to a Meal in Children with Obesity

Roth Christian , Melhorn Susan , Elfers Clinton , Scholz Kelley , De Leon Mary Rosalynn , Saelens Brian , Schur Ellen

Behavioral studies suggest that brain satiety responses to food consumption are altered in children with obesity. We studied brain regions involved in satiety processing using functional magnetic resonance imaging (fMRI) before and after a test meal. Satiety-related hormonal changes were assessed. Fifty-four 9-11 year-old children with obesity (OB) and 22 children with healthy weight (HW) were studied. Subjects underwent two fMRI scans, one before and one after a test meal, an...

hrp0089p3-p122 | Diabetes &amp; Insulin P3 | ESPE2018

Challenges in Educating New Onset Type 1 Diabetes Mellitus Patients: Can the Use of a Tablet be the Answer?

Aisenberg Javier , Rosini Lynda , Haugh Jeanette , Mathus Susan , De Vito Michele , Brennan Ingrid , Ghanny Steven

Background: Educating patients and families on the management of Type 1 Diabetes Mellitus (DM) has always been a challenge. Some endocrinologists educate patients and families with new onset Type 1 DM in the inpatient setting, while others have tried to do this process as an outpatient given the changes in the limits of inpatient coverage. Given the challenges in the education process, we must find new and innovative ways to educate patients and families efficiently in order t...