hrp0089p1-p105 | Fat, Metabolism and Obesity P1 | ESPE2018

Effect of a Melanocortin-4 Receptor (MC4R) Agonist, Setmelanotide, on Obesity and Hyperphagia in Individuals Affected by Alström Syndrome

Han Joan C , Fiedorek Fred T , Hylan Michelle , Folster Cathy , Hiwot Tarekegn

Background: Alström syndrome (AS) is a rare genetic ciliopathy characterized by severe early-onset obesity, hyperphagia, retinal dystrophy, hearing loss, and cardiomyopathy. Rodent studies suggest that cilia play an important role in the leptin-MC4R pathway, which regulates energy balance and body weight. Setmelanotide, a peptide agonist of the MC4R, has led to weight loss in individuals affected by other rare genetic obesity disorders resulting from dysfunction in this p...

hrp0089p1-p156 | GH & IGFs P1 | ESPE2018

The Effect of Growth Hormone Treatment in Children after Hematopoietic Stem Cell Transplantation

Hoekx CA , Bresters D , Le Cessie S , Scholte C , Oostdijk W , Hannema SE

Background: Hematopoietic stem cell transplantation (HSCT) has become more common in treating malignant and nonmalignant diseases in children. However, HSCT is associated with several late effects that can impair growth, like insufficient growth hormone (GH) secretion, hypogonadism and growth plate damage. Growth hormone treatment (GHRx) is offered but limited data are available on its effect on adult height.Objective: To evaluate the effectiveness of GH...

hrp0086rfc1.1 | Adrenals | ESPE2016

Tracing the Glucocorticoid Receptor Evolutionary Pedigree: Insights from a Comprehensive Phylogenetic Analysis of the Full NR Super-Family

Vlachakis Dimitrios , Nicolaides Nicolas C. , Papageorgiou Louis , Lamprokostopoulou Agaristi , Charmandari Evangelia

Background: The nuclear receptor (NR) family comprises three main subfamilies: the steroid hormones receptors, the thyroid/retinoid hormone receptors and the orphan receptors. Proteins within the NR family share common domain architecture. These closely related receptors and their cognate ligand compounds play a key role in homeostasis, reproduction, growth and development. Despite their biological significance, their evolution and diversification remains to be elucidated....

hrp0086rfc2.5 | Bone & Mineral Metabolism | ESPE2016

Growth Patterns and Fractures in Boys with Duchenne Muscular Dystrophy: Insights from Over 800 Boys in the UK North Star Cohort

Joseph Shuko , Bushby Katherine , Guglieri Michela , Horrocks Iain , Ahmed S Faisal , Wong S C

Background: There is little information on growth and fractures in boys with Duchenne Muscular Dystrophy (DMD).Objective & hypotheses: To determine the extent of growth & skeletal morbidity in a contemporary cohort of DMD in the UK.Method: Clinical details of 832 boys with DMD in the North Star database (2006–2015) from 23 centres were analysed following categorisation into five age groups: A:<5 years (n, ...

hrp0086rfc11.1 | Thyroid | ESPE2016

Central Hypothyroidism and Biallelic Defect Near the D/ERY Motif of the TRHR Gene

Garcia Marta , de Buitrago Jesus Gonzalez , Pardo Leonardo , Hinkle Patricia M. , Moreno Jose C.

Background: The TRH receptor (TRHR) is a G-protein coupled receptor activated by hypothalamic TRH. In thyrotropes, TRH-TRHR signalling controls synthesis, secretion and bioactivity of TSH. Human TRHR defects are extremely rare, and only three cases are known with central hypothyroidism and short stature as variable presenting feature.Objective and hypotheses: Phenotypical characterization of a family with suspected central hypothyroidism and inv...

hrp0086p2-p62 | Adrenal P2 | ESPE2016

Final Height Data in a Cohort of Patients with Congenital Adrenal Hyperplasia Treated with Tailored Doses of Hydrocortisone

Shir Wey Pang Gloria , Rumsby Gill , Hindmarsh Peter C , Dattani Mehul T

Background: Patients with congenital adrenal hyperplasia (CAH) are glucocorticoid deficient and require cortisol replacement to maintain homeostasis and prevent adrenal crises. Hydrocortisone dosing needs to be individualized because of variable cortisol clearance rates. Patients are thus prone to be either over or undertreated, both of which compromises final height.Objective and hypotheses: Performing 24-h cortisol profiling serially may allow for more...

hrp0086p2-p268 | Diabetes P2 | ESPE2016

A Patient with a Rare Monogenic Diabetes Syndrome

Veetil Vimal Mavila , Pachat Divya , Krishnanunni Sudha , Naseerali M C , Majeed P Abdul

Aim: To delineate the diagnosis in a case of antibody negative infantile onset diabetes with deranged liver function.Case Report: A female child, first born of consanguineous couple presented with Diabeteic Keto Acidosis and acute liver failure at 9 months of age. She has been treated as a case of Type I diabetes and was discharged on insulin. Child was further evaluated at our center at 11 months of age. On examination, she had a normal anthropometry an...

hrp0086p2-p499 | Fat Metabolism and Obesity P2 | ESPE2016

Multidisciplinary Care Management of Pediatric Obesity and Factors Associated with Better Outcomes

Thibault Helene , Carriere Caroline , Cabaussel Cassandre , Bader C , Barberger-Gateau Pascale , Barat Pascal

Background: RePPOP Aquitaine (network of prevention and treatment of pediatric obesity in southwest France) has developed a multidisciplinary approach to treat childhood obesity based on multicomponent lifestyle interventions and family-based actions.Objective and hypotheses: This study assessed the impact of the care management proposed by RePPOP Aquitaine and investigated factors associated with better outcomes.Method: The impact...

hrp0082fc8.6 | Fat Metabolism | ESPE2014

A Novel Missense Variant in the Insulin Receptor Gene in Three Unrelated Irish Families with Severe Insulin Resistance Syndrome: Evidence for an Irish Founder Effect

Mavinkurve M , O'Connell S , Cody D , Isaac I , Harris J , Semple R K , Mc Donnell C

Background: Genetic defects in the insulin receptor (INSR) are rare. Precise prevalence is unknown and significant clinical heterogeneity exists. Over 120 allelic variants have been described to date, spread throughout the receptor, and few geographical founder effects have been described. In this case series we identify a novel missense mutation in the tyrosine kinase domain of the INSR in three independently ascertained Irish families.Objective and Hyp...

hrp0082fc11.6 | Pituitary | ESPE2014

Clinical and Neuroradiological Characteristics in Children and Adolescents with Septo-Optic Dysplasia, Multiple Pituitary Hormone Deficiencies and Optic Nerve Hypoplasia: Experience from a Single Tertiary Centre

Guemes Maria , Cerbone Manuela , Bagkeris Manolis , Gregory L C , Kasia Tessa , Dattani Mehul

Background: Septo-optic dysplasia (SOD) is an important cause of hypopituitarism, although less common than multiple pituitary hormone deficiency (MPHD). Children with optic nerve hypoplasia (ONH) are at risk of hormone and neurocognitive disturbances.Objective and Hypotheses: We describe clinical and neuroradiological findings of these three overlapping conditions, aiming to understand their pathophysiology.Method: Retrospective a...