ESPE Abstracts

Background: Endocrine impairments, such as diabetes insipidus (DI), growth hormone deficiency (GHD) and, to a lesser degree, thyroid or cortisol deficiencies, have been reported after traumatic brain injury (TBI) in adults and much less in children both at the acute post-traumatic phase and after a lag period of time. However, no prospective data exist on the endocrine and acute phase protein response to TBI in childhood.Aim/objective: To unravel possibl...

Introduction: Maturity Onset Diabetes of the Young (MODY) constitutes a genetically and clinically heterogeneous type of Monogenic Diabetes (MD), characterized by early onset of hyperglycemia, autosomal dominant inheritance and defect in β-cell insulin secretion. To date, 14 different MODY subtypes have been reported, each one with a distinct genetic etiology.Materials and Methods: We designed a NGS TGP of seven ...

Context: The early activation of adrenal zona reticularis, denoted by increased circulating levels of adrenal androgens before the age of eight years in girls is called premature adrenarche (PA), while the concomitant appearance of pubic hair is termed premature pubarche (PP). Girls with PA-PP display an unfavorable metabolic, hormonal and psychologic profile, compared to their normal peers and are also at an increased risk of developing polycystic ovary syndrome (PCO...

Background: PHA1 is a rare inherited disease characterized by resistance to aldosterone action and distinguished in two forms: the autosomal dominant renal form caused by mutations of the NR3C2 gene (MR) and the autosomal recessive systemic form caused by mutations of the subunit genes SCNN1A, SCNN1B, SCNN1G of the epithelial sodium channel (ENaC). The classic phenotype of the autosomal recessive form of PHA1 is usually severe, lifelong, and expressed with mu...

Background: Attention-deficit/hyperactivity disorder (ADHD) is the most common neurodevelopmental condition in school-aged children, with a prevalence of 5–8%. In individuals with ADHD, there is an attenuated biologic stress response to challenging situations.Objective: This study aimed at evaluating the effectiveness of an 8-week stress management program, comprising self-applied cognitive exercises, on stress perception and anxiety symptoms, sleep...

Background: ACTH-independent adrenal Cushing’s syndrome accounts for less than 15% of endogenous Cushing’s syndrome in children. We present a rare case of ACTH-independent adrenal Cushing’s syndrome, which was associated with myoclonic dystonia.Case presentation: A 12-year old girl was referred on account of rapid weight gain, fatigue, growth deceleration and facial hypertrichosis. She had a history of gait instability and ataxia till the ...

Background: Kisspeptin (encoded by the KISS1 gene in humans), originally described as a puberty onset regulating neuropeptide, is involved in many homeostatic systems, including nutrition status, glucose homeostasis, locomotor activity, etc. Thus, in today’s obesity epidemic, kisspeptin is gaining increasing interest as a research target.Aim: To construct an updated interactome of genetic determinants of obesity, including the kisspeptin si...

Introduction: Body composition analysis is a painless, bloodless and highly informative method of assessing health indicators that can be used extensively in the pediatric population. This is particularly important granted that the prevalence of childhood obesity has been increasing at a fast pace worldwide. Increased adiposity in children and adolescents is an important issue for children’s growth and psychologic development. Assessing the psychosocial status of children...

Background: Translational research has provided evidence of autonomic nervous system (ANS) interactions with cytokines and gut hormones. In the gastrointestinal track, the crosstalk of the stimulated vagus nerve with immune cells enhances the cholinergic tone. In obesity, on the other hand, hyperinsulinemia and hyperleptinemia induce ANS activation.Aim: To synthesize literature results exploring links among the autonomic nervous system, gut hormones, imm...

Background: Attention-deficit/hyperactivity disorder (ADHD) is the most prevalent neurodevelopmental disorder worldwide. Evidence suggests dysfunction of the fronto-subcortical pathways and the dopaminergic and noradrenergic systems, as well as dysregulation of the stress system, i.e., the hypothalamic–pituitary–adrenal (HPA) axis and the sympathetic nervous system (SNS).Objective and hypotheses: The aim of the study was to examine i) the diurn...