ESPE Abstracts

Background: Endoplasmic reticulum (ER) is the site where proteins are folded in the cell. Metabolic stress alters ER homeostasis and activates the unfolded protein response (UPR), which contributes to the development of insulin resistance and metabolic syndrome.Objective and hypotheses: To longitudinally evaluate liver UPR and its functional consequences in an animal model of IUGR followed from birth to adulthood.Method: On day 19 ...

Background: Fetuin A is a hepatokine known as a natural inhibitor of the insulin receptor tyrosine kinase and is associated with insulin resistance and nonalcoholic fatty liver disease (NAFLD). Studies on adults provided conflicting results regarding the link between fetuin A and the severity of liver damage in NAFLD. Data on children are limited.Objective: To investigate the relationship between fetuin A, metabolic parameters, and NAFLD in obese childre...

Background: As a result of hypothalamic involvement and/or treatment-related hypothalamic damage, up to 75% of childhood craniopharyngioma patients develop hypothalamic obesity.outcome is important for optimization of treatment.Method: Eating behaviour was analysed in 101 survivors of childhood craniopharyngioma, recruited from 1980 to 2001 in the HIT-Endo multicentre study, and in 85 BMI-matched healthy controls using the Inventory for eating behavior a...

Background: Rare congenital conditions with incongruence of chromosomal, gonadal, and phenotypic sex have been summarized as disorders of sex development (DSD). Included in DSD are conditions with diverse genetic etiology, varying levels of prenatal androgen effects, phenotypes, and subsequently, different medical treatments. Quality of life (QoL) and psychological wellbeing are indicators of successful psychosocial adaptation to the conditions. Studies addressing these issues...

Background: Juvenile Pagets disease (JPD), an ultra-rare, debilitating bone disease stemming from unopposed RANKL action due to loss of functional osteoprotegerin (OPG) is caused by recessive mutations in TNFRSF11B. A genotype-phenotype correlation spanning from mild to very severe forms is described.Objective and hypotheses: To describe the complexity of the human phenotype of OPG deficiency in more detail and to investigate heterozygous mutation carrie...

Background: Weight status in children is commonly defined using BMI (SDS), but this measure is problematic due to the skewness of the BMI distribution and its age-dependant increase. In addition, it is difficult for physicians or parents alike to grasp what a certain value means. Excess body weight (EBW) is frequently used in adult patients in the context of bariatric surgery.Objective and hypotheses: An appropriate definition for the paediatric populati...

Introduction: Noonan syndrome (NS) and Turner syndrome (TS) are distinct genetic disorders with similarities in phenotype, including short stature. The NordiNet® IOS and the ANSWER Program® are observational studies evaluating effectiveness and safety of GH treatment in real-world practice.Methods: The study population included children with NS or TS with puberty recordings, enrolled in NordiNet® IOS or ANS...

Introduction: Iodide transport in the thyroid is crucial for thyroid hormone synthesis. A homozygous loss-of-function mutation in the SLC26A4gene coding an iodide transporter located at the apical side in the thyroid follicular cells causes Pendred syndrome accompanied with goitrous congenital hypothyroidism (CH) and sensorineural deafness. However, about half of patients with Pendred syndrome demonstrate normal thyroid function. This indicates anothe...

Introduction: Thyroid cancers are rare cancers in children and their incidence is 1.4% in pediatric malignancies. However, its frequency is increasing. While the incidence of prepubertal children is equal among girls boys, it increases with age in female patients. Radiotherapy, which is applied to the neck region, and hashimoto disease are the risk factors. The relationship between Hashimoto's disease and papillary thyroid cancer is thought to be assoc...

Background: Accumulating evidence has indicated that assisted reproductive technologies (ART) influence the metabolic physiology of the offspring, with a higher predisposition to metabolic disorders. Long-term metabolomic studies that separately consider males and females conceived with intra-cytoplasmic sperm injection (ICSI) vs naturally conceived (NC) children are needed. Previously, we had reported that ICSI-conceived prepubertal girls exhibit significant alterations in th...