hrp0082p3-d2-636 | Adrenals & HP Axis (1) | ESPE2014

Neonatal Hypercalcaemia Associated with Congenital Adrenal Hyperplasia

Binay Cigdem , Simsek Enver , Tekin Neslihan , Demiral Meliha

Background: Adrenal insufficiency is an important and potentially life-threatening condition, and it is also known as a rare cause of hypercalcaemia.Objective and hypotheses: Resistant hypercalcemia may be associated with hypocortisolism.Method: A 18-day-old male infant was born at 36 weeks by emergency cesarean section for fetal distress and intrauterine growth retardation. He was referred to paediatric endocrinology because of th...

hrp0082p3-d2-781 | Fat Metabolism & Obesity (1) | ESPE2014

Relationship Between Adiposity Degree and Physical Activity and Inactivity Among Children and Adolescents

Leis Rosaura , Vazquez-Cobela Rocio , Bedoya Juan Jose , Seoane Luisa Maria , Barja-Fernandez Silvia , Aguilera Concepcion , Olza Josune , Bueno Gloria , Gil-Campos Mercedes , Castro-Feijoo Lidia , Moreno Luis , Gil Angel , Tojo Rafael

Introduction: The highest prevalence of children and adolescents with obesity in Europe is observed in the south countries. This epidemic is related to unhealthy eating patterns, decreased physical activity and increased inactivity.Objective: To determine the relationship between adiposity degree and physical activity and inactivity in children and adolescents.Methods: 338 children from 6 to 8 years of age (x=11.11 years);...

hrp0082p3-d1-876 | Perinatal and Neonatal Endocrinology | ESPE2014

Biochemical Studies in Patients with Hyperinsulinaemic Hypoglycaemia

Otaibi Hessah Al , Senniappan Senthil , Alam Syeda , Hussain Khalid

Background: Hyperinsulinaemic hypoglycaemia (HH) is characterized by the dysregulated secretion of insulin from the pancreatic β-cell. It is a major cause of severe and persistent hypoglycaemia in the newborn period. The rapid diagnosis and avoidance of recurrent episodes of hypoglycaemia are vital in preventing brain damage.Objective and hypotheses: To assess if the serum insulin measured at the time of hypoglycaemia in neonates with HH could be co...

hrp0082p3-d2-891 | Perinatal and Neonatal Endocrinology (1) | ESPE2014

A Novel Mutation in the NR3C2 Gene Causing Pseudohypoaldosteronism Type 1

Sertedaki Amalia , Kanaka-Gantenbein Christina , Chrousos George P

Background: Pseudohypoaldosteronism type 1 (PHA1) is a rare inherited disease characterized by mineralocorticoid resistance with subsequent salt wasting, hyperkalemia, metabolic acidosis, and elevated plasma renin and aldosterone levels.Patients and methods: We report a male newborn that presented with failure to thrive and sustained hyponatremia during his early postnatal period. He was conceived after IVF (twin pregnancy) and prematurely born by cesare...

hrp0082lbp-d3-1002 | (1) | ESPE2014

Pseudoexon Activation in Nicotinamide Nucleotide Transhydrogenase in Two Siblings with Familial Glucocorticoid Deficiency

Chan Li , Novoselova Tatiana , Rath Shoshana , Carpenter Karen , Atkinson H , Dickinson Jan , Pachter Nick , Price G , Choong Cathy , Metherell Lou

Background: Two siblings of non-consanguineous parents presented with FGD, demonstrated by ACTH resistance with glucocorticoid but not mineralocorticoid deficiency. The proband presented at 21 months, unresponsive with hypoglycaemia (BGL 1.5 mmol/l). Endocrine evaluation subsequent to resuscitation indicated adrenal insufficiency with elevated ACTH. Hydrocortisone therapy was commenced. A sibling, 4 years younger than the proband had a short Synacthen test (SST) performed on d...

hrp0084p2-168 | Adrenals | ESPE2015

The Natural Mutant Receptor hGRαT556I Causes Primary Generalised Glucocorticoid Resistance Through Decreased Affinity for the Ligand and Impaired Interaction with the GRIP1 Coactivator

Nicolaides Nicolas C , Skyrla Eirini , Vlachakis Dimitrios , Psarra Anna-Maria G , Sertedaki Amalia , Kossida Sophia , Charmandari Evangelia

Background: Primary generalised glucocorticoid resistance (PGGR) is a rare condition characterised by tissue insensitivity to glucocorticoids owing to inactivating mutations of the hGR gene. A new case of PGGR was reported in a patient with an adrenal incidentaloma harboring a novel heterozygous point mutation in the hGR gene, which resulted in threonine (T) to isoleucine (I) substitution at amino acid position 556 of the receptor.Objec...

hrp0084p2-273 | Diabetes | ESPE2015

Utility of Estimated Glucose Disposal Rate and Fat Mass Percentage for Predicting Metabolic Syndrome in Children and Adolescents with Type 1 Diabetes

Koken Ozlem , Kara Cengiz , Yilmaz Gulay Can , Aydin Murat

Objective: To determine the prevalence of metabolic syndrome (MetS) and the clinical utility of fat mass percentage (%fat) and estimated glucose disposal rate (eGDR) for predicting MetS in children and adolescents with type 1 diabetes (T1D).Method: We conducted a descriptive, cross sectional study including T1D patients between 8–18 years of age. Modified criteria of IDF, WHO and NCEP were used to determine the prevalence of MetS. eGDR, a validated ...

hrp0084p3-843 | Fat | ESPE2015

Increased Glucagon-Like Peptide-1 Response to Oral Glucose in Prepubertal Obese Children

Marcovecchio M Loredana , Polidori Nella , Giannini Cosimo , De Giorgis Tommaso , Chiarelli Francesco , Mohn Angelika

Background: Over the last years a role for gastrointestinal hormones, such as glucagon-like peptide (GLP-1), in the pathogenesis of obesity and its complications, has been hypothesized. However, there are few data for the paediatric population.Objective and hypotheses: To assess whether there is a difference in post-load GLP-1 response in obese children compared to normal-weight peers and to assess the relationship with insulin responses.<p class="ab...

hrp0084p3-1145 | Puberty | ESPE2015

Changes in BMI During GNRH Agonist Treatment in Girls with Idiopathic Central Precocious Puberty and Early Puberty

Lee Hae Sang , Jeong Hwal Rim , Kim Eun Young , Hwang Jin Soon

Background: GNRH agonist (GnRHa) has been widely used for decades to treat in patients with central precocious puberty (CPP). There are severe studies concerning changes in body composition in CPP patients following GnRHa treatment, but the results are inconsistent.Objective and hypotheses: The aim of this study was to investigate the change of BMI in children treated with GnRHa for 2 years. Also, the present study was performed to assess whether BMI aff...

hrp0094p1-171 | Growth Hormone and IGFs B | ESPE2021

Diagnosing growth hormone deficiency - Can a combined arginine and clonidine stimulation test replace two separate tests?

Oron Tal , Krieger Avihu , Yakobovich-Gavan Michal , Tenenbaum Ariel , Diamant Rotem , Phillip Moshe , Lazar Liora ,

Objective: Given a large number of false-positive growth hormone deficiency (GHD) diagnoses from a single GH stimulation test in normal children, two different pharmacological tests, performed on separate days or sequentially, are required. This study aims to assess the reliability and safety of a combined clonidine-arginine stimulation test (CACST).Design: Retrospective, single-center, observational study....