ESPE Abstracts

Background: Transient Generalized Glucocorticoid Hypersensitivity (TGGH) is a rare disorder characterized by increased tissue sensitivity to glucocorticoids and compensatory hypoactivation of the hypothalamic–pituitary–adrenal (HPA) axis. The condition itself and the underlying molecular mechanisms have not been fully elucidated.Objective and hypotheses: To present the clinical manifestations, endocrinologic evaluation and molecular studies in ...

Background: Implementation of neonatal screening programs for congenital hypothyroidism (CH) has reduced related nosologies and has eradicated CH-associated mental impairment. With the decrease of the TSH cut-off limits employed to avoid false negative results, milder cases of CH are diagnosed. Obviously, in a number of patients, especially among milder CH cases, thyroid dysfunction is transient. The diagnosis of transient vs. permanent CH is established in time. No specific p...

Introduction: Vitamin D plays a key role in bone health of adolescents. Meanwhile, its potential extra-skeletal health benefits have resulted in the association of vitamin D deficiency with a wide range of acute and chronic diseases. As a consequence, hypovitaminosis D in adolescence is considered to have serious adverse effects and is highlighted as a global public health concern. Practical guidelines help clinicians make their preventive and therapeutic choices and improve c...

Introduction: Adolescent obesity is often characterized by comorbidities with cardiovascular effects in adulthood. Treatment options for these conditions are limited during adolescence. Basic research in animals and clinical data in adults have shown that Crocus Sativus (Krokos Kozanis) has a beneficial effect on dyslipidemia, obesity and type 2 diabetes.Aim: The study of the lipidemic profile in fasting state, in adoles...

Introduction: Neurofibromatosis type 1 (NF1) is an autosomal dominant multisystemic neurocutaneous disorder characterized by an increased risk of benign and malignant tumor formation (neurofibromas, glioma and gastrointestinal stromal tumor). The incidence has been described to be around 1 in 2,500–3,500 live births, and the estimated prevalence is 1 in 4,000–5,000. Although it was first described by von Recklinghausen in 1882, the formal diagnostic criteria were pub...

Background: The Clock/Bmal1 transcription factor heterodimer regulates the circadian activities of many biological systems, including the hypothalamic-pituitary-adrenal (HPA) axis, by trans-activating or trans-repressing downstream target genes. 1,25 Dihydroxy Vitamin D (Vitamin D), a sterol hormone that is activated by exposure to sunlight, plays a fundamental role in maintaining calcium and phosphorus homeostasis. Recent evidence suggests that the nuclear vi...

Background: Obesity in childhood and adolescence represents one of the most challenging public health problems of our century. The prevalence of overweight and obesity in Greece is approximately 21% in children younger than 6 years and up to 40% in older children and adolescents. Mild elevations of TSH concentrations are often detected in obese children and adolescents.Aim: To investigate the thyroid function in overweig...

Introduction: Aromatase excess syndrome (AEXS) is a rare, autosomal dominant disorder, characterized by enhanced extraglandular aromatization of androgens and estrogen excess. Genomic rearrangements in chromosome 15q21 are found to result in overexpression of the aromatase gene CYP19A1. In males it is characterized by pre- or peripubertal gynecomastia, hypogonadotropic hypogonadism, advanced bone age and short adult height. Only a few female patients have been...

Introduction: Congenital hyperinsulinism(CHI) is a rare complex disorder of hypoglycaemia attributable to inappropriate and dysregulated insulin secretion from the pancreas with an incidence of 1:50 000(1:2500 in consanguineous populations). Genetics involves defects mainly in the KATP channel genes ABCC8 and KCNJ11.Aim: We describe a male infant, presented with refractory hypoglycaemia the first week of life.<p clas...

Background: Thyroid dysfunction may predispose to imbalanced body composition.Objective and hypotheses: The aim of the study is to evaluate bone, muscle and fat mass in teenagers with congenital hypothyroidism and correlate their bone profile with laboratory parameters, in an effort to offer more effective lifestyle counselling.Method: Adolescents diagnosed with congenital hypothyroidism through neonatal screening underwent thoroug...