ESPE Abstracts

Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders resulting from deficiency of one of the enzymes required for synthesis of cortisol in the adrenal cortex. The most common form of the disease is classic 21-hydroxylase deficiency, which is characterized by decreased synthesis of glucocorticoids and often mineralocorticoids, adrenal hyperandrogenism and impaired development and function of the adrenal medulla. The clinical management of classic 21-...

Background: The prevalence of obesity has increased dramatically in Greece in the last two decades, and more than 35% of children and adolescents are currently overweight or obese. Prevention could be the key strategy for controlling the current epidemic of obesity.Objective and hypotheses: Prevention is the main scope of the Program entitled ‘Development of a National System for the Prevention and Management of Overweight and Obesity in Childhood a...

Background: Obesity in childhood and adolescence represents a major health problem that reached epidemic proportions in the last decades. Obesity is characterized by an increase in the adipose tissue, which leads to chronic inflammation and release of adipokines, like Fibroblast Growth Factor 21 (FGF21). On the other hand, intense exercise results in decreased adipose tissue, which leads to the release of proteins, the myokines, like irisin. In obesity a resistance in FGF21 an...

The Easypod™ Connect Observational Study (ECOS) was the first global study of easypod™, currently the only electronic injection device for recombinant human growth hormone (r-hGH; Saizen®). ECOS reported accurate and robust real-time adherence data in a large cohort of patients. In this analysis, we assess the adherence of r-hGH administered via easypod™ in a cohort of Greek patients from ECOS (EMR200104-520, NCT01363674). Patients aged 2–18...

Background: Primary generalized glucocorticoid resistance (PGGR) is a rare, familial or sporadic condition, characterized by generalized, partial tissue insensitivity to glucocorticoids. The molecular basis of this condition has been ascribed to mutations in the NR3C1 (human glucocorticoid receptor, hGR) gene, which impair the molecular mechanisms of hGR action and decrease tissue sensitivity to glucocorticoids. However, a considerable number of patients with PGGR do ...

Background: Polycystic ovary syndrome (PCOS) is a complex endocrine genetic disorder, which is associated with increased metabolic and cardiovascular morbidity. Vitamin D or omega-3 fatty acids supplementation may alleviate the metabolic and reproductive complications of PCOS.Objective and hypotheses: To compare clinical, psychometric, biochemical, endocrine, bone and sonographic markers in vitamin D sufficient adolescents with PCOS, pre- and post- 6 mon...

Background: Obesity in childhood and adolescence represents a major health problem of our century. In Greece, more than 30-35% of children and adolescents are currently overweight or obese.Objective: To evaluate and further develop the 'National Registry for the Prevention and Management of Overweight and Obesity in Childhood and Adolescence' in order to provide personalized intervention programs for overweig...

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: 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....