ESPE Abstracts

Introduction: Klinefelter syndrome (KS) occurs in approximately 1 in 650 males, representing the most common sex chromosome disorder. However, it is estimated that only 25% of KS patients are ever diagnosed, and 90% of them are not identified until 15 years of age. The disease is caused by congenital aneuploidy of the sex chromosomes; the most usual karyotype being 47, XXY. Typical phenotype includes tall stature, hypergonadotropic hypogonadism, small ...

Introduction: Primary Generalized Glucocorticoid Resistance or Chrousos syndrome (CS) is a rare sporadic or familial disorder characterized by generalized, partial tissue insensitivity to glucocorticoids. Mutations of the NR3C1 gene, which encodes the human glucocorticoid receptor, have been identified in many but not all patients with CS.Objective: To identify novel genes related to CS in patients without NR3C1 gene mutations.<p cl...

Background: Low birth-weight (bw) and unfavourable intrauterine conditions are associated with a subsequent impact on the endocrine system. However, very little is known about the impact on thyroid function.Objective and hypotheses: We observed genetically identical twins with intra-twin bw-differences from birth until adolescence to objectify the impact of a lower bw on development and health in later life.Method: Bw-difference of...

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: 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....

Background: Obesity in adulthood is associated with shorter leukocyte telomere length, a marker of biological age that is also associated with age-related disorders, including cardiovascular disease and type 2 diabetes mellitus.Objective and Hypotheses: To investigate the relation between BMI in childhood and adolescence and telomere length, by determining the mean telomere length of leukocytes.Patients and Method: Seven hundred fo...

Background: Primary generalized glucocorticoid resistance (PGGR) or Chrousos syndrome is a rare familial or sporadic condition caused by mutations in the hGR gene, which reduce tissue sensitivity to glucocorticoids. A new case of PGGR caused by a novel heterozygous point mutation in the hGR gene, which resulted in threonine (T) to isoleucine (I) substitution at amino acid position 556 in the ligand-binding domain of the receptor, was recently reported in a patient with an adre...

Background: Carriers of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) demonstrate increased secretion of cortisol precursors following ACTH stimulation, suggestive of impaired cortisol production, and compensatory increases in hypothalamic CRH secretion. Both cortisol and CRH have behavioural effects, and hypothalamic CRH hypersecretion has been associated with chronic states of anxiety and depression.Objective and hypoth...

Background: The prevalence of childhood obesity has increased dramatically in the last decades and accounts for a significant increase in morbidity and mortality in adulthood.Objective and hypotheses: To determine the prevalence of 25-hydroxyvitamin D insufficiency and deficiency in overweight and obese children and adolescents.Method: 350 (n=350) children and adolescents (153 males (M), 197 females (F)) were recruited to ...

Background: Obesity in childhood and adolescence represents one of the main health problems of the 21st century. Fibroblast Growth Factor 23 (FGF-23) and its co-receptor, Klotho, play an important role in mineral metabolism, however, little is known about their role in obesity.Objective and Hypothesis: To determine the concentrations of FGF-23 and Klotho in children and adolescents with overweight and obesity.<p class="abs...