hrp0095p1-485 | Fat, Metabolism and Obesity | ESPE2022

Thyroid hormones and food preferences in obese children and adolescents

Staník Juraj , Staníková Daniela , Matláková Lea , Demková Linda , Forišek-Paulová Petronela , Slobodová Lucia , Vitariušová Eva , Tichá Ľubica , Ukropcová Barbara , Ukropec Jozef

Background and Aims: Thyroid hormones profoundly affect energy metabolism but their interrelation with food preference, which might contribute to childhood obesity development, are much less understood. Here we investigated if age-related changes of thyroid hormone levels are paralleled by specific modulation of food preference and potentially linked to the level of obesity in children and adolescents.Patients and Methods:</stron...

hrp0092rfc6.3 | Bone, Growth Plate and Mineral Metabolism Session 2 | ESPE2019

Increased Burden of Common Risk Alleles in Children with a Significant Fracture History

Manousaki Despoina , Kämpe Anders , Forgetta Vince , Makitie Riikka , Bardai Ghalib , Belisle Alexandre , Li Rui , Makitie Outi , Rauch Frank , Richards Brent

Background: Fractures are common in children, but a significant fracture history, defined as low-trauma vertebral fractures or multiple long bone fractures, is rare. Children with such history and no osteogenesis imperfecta (OI) are often presumed to have another Mendelian disease. However, in adults, multiple common risk alleles of small effect influence risk of fracture. We tested if subjects with a significant childhood fracture history have an increased bu...

hrp0092rfc10.3 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Level of Uncertainty in Diagnostic Evaluation of Boys With XY Disorders of Sex Development (DSD)

Alimussina Malika , Diver Louise A , McNeilly Jane D , Lucas-Herald Angela K , Tobias Edward S , McMillan Martin , McGowan Ruth , Ahmed S Faisal

Introduction: The degree of consistency between the findings from next generation sequencing (NGS) and detailed endocrine assessment is unclear in boys with XY DSD.Objectives: Examine the range of endocrine and molecular genetic variation in boys undergoing evaluation for XYDSD.Methods: Boys with XYDSD who were evaluated in Glasgow from 2016 to 2018 were included. Sequence variants...

hrp0092rfc11.5 | Pituitary, Neuroendocrinology and Puberty Session 2 | ESPE2019

IGF-1 Serum Concentrations and Growth in Children with Congenital Leptin Deficiency (CLD) Before and After Replacement Therapy with Metreleptin

Beghini Marianna , von Schnurbein Julia , Körber Ingrid , Brandt Stephanie , Kohlsdorf Katja , Vollbach Heike , Lennerz Belinda , Denzer Christian , Wabitsch Martin

Background: Leptin, primarily secreted by adipocytes, is a pivotal signal of the body's energy status and exhibits pleiotropic effects. Homozygous mutations in the leptin gene which result in defective synthesis, release or bioactivity, cause intense hyperphagia and early-onset severe obesity, along with multiple metabolic, hormonal, and immunological abnormalities. In vitro and animal model studies suggest that leptin plays a role in linear growth. So far...

hrp0092p2-44 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Cinacalcet Experience in Hypercalcemia Due to CaSR Mutation

Döger Esra , Akbas Emine Demet , Kilinç Ugurlu Aylin , Küpçü Zekiye , Bideci Aysun , Çamurdan Orhun , Cinaz Peyami

Introduction: Heterozygous inactivating mutations of the CaSR gene (CaSR) generally result in mild, asymptomatic hypercalcemia in the familial hypocalcuric hypercalcemia syndrome. Homozygous inactivating CaSR mutations end up with neonatal severe hyperparathyroidism. Calcimimetics are drugs that interact with the transmembrane part of CaSR and make the receptor more sensitive to calcium. Cinacalcet, a type II calcimimetic, suppresses PTH levels and increases r...

hrp0089rfc6.3 | Fat, Metabolism and Obesity | ESPE2018

Effect of the Melanocortin-4 Receptor Agonist, Setmelanotide, on Obesity and Hyperphagia in Individuals Affected by Bardet-Biedl Syndrome

Haws Robert M , Fletty Kristina L , McIntee Thomas J , Green Clayton , Pomeroy Jeremy , Hylan Michelle , Folster Cathy , Davis Elisabeth K , Brady Sheila M , Fiedorek Fred T , Yanovski Jack A

Background: Bardet-Biedl syndrome (BBS) causes early-onset extreme obesity and hyperphagia that is hypothesized to arise from leptin receptor dysfunction. Setmelanotide, a melanocortin-4 receptor (MC4R) peptide agonist, has been shown to induce weight loss in individuals affected by other rare genetic obesity disorders resulting from leptin-melanocortin pathway dysfunction upstream of MC4R.Objective: Report preliminary data on body weight, hunger scores,...

hrp0089p2-p059 | Bone, Growth Plate &amp; Mineral Metabolism P2 | ESPE2018

Arthrogryposis Multiplex Congenita Type II and Panhypopituitarism

Bideci Aysun , Doğer Esra , Kılınc Uğurlu Aylin , Demet Akbaş Emine , Camurdan Orhun , Cinaz Peyami

Aim: Arthrogryposis Multiplex Congenita type II is an autosomal dominant disease, characterized by multiple congenital contractures in the limbs without a primary neurological deficit. The most frequently observed clinical features are triangular face, palpebral fissures facing downwards, clarity in nasolabial folds, small mouth, high palate, adherent ear lobes, short stature, camptodactyly, ulnar deviations in the fingers, vertical talus and/or talipes equinovarus.<p clas...

hrp0089p3-p042 | Bone, Growth Plate &amp; Mineral Metabolism P3 | ESPE2018

Pseudoachondroplasia

Doğer Esra , Bideci Aysun , Boyunağa Oznur , Kılınc Uğurlu Aylin , Demet Akbaş Emine , Camurdan Orhun , Cinaz Peyami

Aim: Pseudoacondroplasia is a short extremity dwarfism characterized by lifelong arthralgia and early onset osteoarthritis. At birth there is a normal height and face appearance. At the beginning of walking, first symptom is a swaying walking nature. Typically, at second year of life, short height becomes apparent and leads to a disproportionate short-limb appearance. In childhood, joint pain in the broad joints especially in the lower extremities is common. Degenerative joint...

hrp0089p1-p040 | Diabetes &amp; Insulin P1 | ESPE2018

Poor Metabolic Control in Children and Adolescents with Type 1 Diabetes and Psychiatric Comorbidity

Sildorf Stine M , Breinegaard Nina , Lindkvist Emilie B , Tolstrup Janne S , Boisen Kirsten A , Teilmann Grete K , Skovgaard Anne Mette , Svensson Jannet

Objective: Type 1 diabetes in childhood is associated with an increased risk of psychiatric morbidities. We investigated predictors and diabetes outcomes in a pediatric population with psychiatric comorbidities.Research Design and Methods: Nationwide pediatric registerbased study. Data from the Danish national childhood diabetes register (DanDiabKids) and The National Patient Register were collected (1996–2015) for this population-based study. We us...

hrp0089p2-p101 | Diabetes &amp; Insulin P2 | ESPE2018

The Levels of Blood Glucose and Counting of Carbohydrate-Fat-Protein in Diabetic Children Using Pump with Aspart and Glulisine

Doğer Esra , Bozbulut Rukiye , Ercan Şebnem , Kılınc Uğurlu Aylin , Demet Akbaş Emine , Bideci Aysun , Camurdan Orhun , Cinaz Peyami

Introduction: In children with Type 1 diabetes, the insulin dose administered to, fasting blood sugar, the amount of food,contents and glycemic index can affect the postprandial blood sugar. Despite the intensive insulin therapy and carbohydrate (CHO) counting the expected improvements in glycemic control is not observed. Compared to other fast affecting analogues, Insulin glulisine has a faster onset of effect and a shorter duration. It has previously been reported that, in c...