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: Chronic stress and increased adiposity have been associated with each other in children. Further studies are needed, however, to evaluate both the directionality of this association and the mediating metabolic mechanisms.Objective and hypotheses: This study investigates the interrelations between BMI, body composition parameters, indices of the stress response, such as hair and salivary cortisol levels, and, metabolic mediators, such as insul...

Background: Since the initiation of neonatal screening programs for Congenital Hypothyroidism (CH) in the 1970’s, a gradual decrease of TSH cut-off limits has been observed worldwide. Nevertheless, lack of universal consensus has led to wide variation of cut-off limits and LT4 therapy criteria among screening programs, even within the same country. The Greek neonatal CH screening program is carried out by a single laboratory that uses one of the lowest cut-off limits worl...

Background: The term Congenital Hypothyroidism (CH) describes children with subnormal thyroid hormone levels present at birth. According to literature, CH has an incidence of ~1:1500–1:3000 births with a clear predominance of females (female:male ratio 2:1) and is mainly caused by thyroid dysgenesis (80%). Low FT4 levels have been used as important criteria for CH diagnosis and treatment initiation. The Greek neonatal CH screening program has followed the TSH cut-off lowe...

Background: A high frequency of extrathyroidal congenital anomalies has been reported in infants with congenital hypothyroidism (CH) detected by neonatal screening. Current ESPE guidelines suggest that congenital malformations, underlying dysmorphic syndromes and psychomotor and language development should be sought for and monitored in CH patients. The identification of co-existing nosologies and malformations is helpful not only for clinical purposes but also for uncovering ...

Background: Oxidative stress and adipocytokines are associated with obesity.Objective and hypotheses: To investigate the association of adipocytokines with markers of pro- and anti-oxidation at baseline and their change and correlations during acute aerobic exercise in normal weight and obese pre- and early-pubertal boys.Method: Fifty healthy pre- and early-pubertal, normal weight and obese boys, underwent a baseline blood sampling...

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...

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...

Background/Aims: Since the introduction of Assisted Reproduction Technologies (ART), including classic In Vitro Fertilization (IVF) and Intacytoplasmic Sperm Injection (ICSI), in clinical practice, several studies have addressed concerns regarding the long-term health of the offspring, revealing indications of an adverse cardiometabolic outcome. Proprotein convertase subtilisin/kexin type 9 (PCSK9) circulating level is significantly associated with an increased risk of cardiov...

Background: FOXE1 gene variants containing alterations in the alanine tract length may confer susceptibility to primary ovarian insufficiency (POI). BMP15 gene variants have also been related to POI.Objective and hypotheses: To evaluate the contribution of FOXE1 and BMP15 variants in the pathogenesis of POI and to investigate the hypothesis of digenic inheritance in this disorder.Method: FOXE1 and BMP...