ESPE Abstracts

The standard of care for the treatment of hypothyroidism is the administration of daily tablets of levothyroxine (LT4) at doses that normalize serum TSH levels. In most patients, this approach elevates serum thyroid hormone (TH) levels and eliminates symptoms of overt hypothyroidism. Nonetheless, treatment with LT4 in adults does not fully normalize the TH economy. Despite normal TSH levels, many patients exhibit a reduction in the serum T3/T4 ratio due to a relative excess of...

SHOX gene haploinsufficiency is a well-documented cause of short stature and skeletal abnormalities; SHOX duplications appear very rare and of uncertain clinical significance. If relatively extended, they can result in SHOX overexpression with normal or tall stature. Partial SHOX duplications seems to have a more deleterious effect on skeletal dysplasia and short stature than complete SHOX duplications. MLPA (Multiplex Ligation-dependent Probe Amplification) analysis of SHOX/P...

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...

Objective: The aim of this study was to compare the sociodemographic and cognitive profile, the learning performance and symptoms of attention deficit hyperactivity disorder (ADHD) of children and adolescents survivors of pediatric cancer to those of healthy controls.Methods: Thirty survivors of pediatric cancer and thirty age-matched controls (mean age ± SD 11.7 ± 2.7 years, 46.0% boys, 54.0% girls) we...

Objective: The aim of this study was to compare the psychometric and psychosocial profile of children and adolescents survivors of pediatric cancer to that of healthy controls.Methods: Children and adolescents survivors of pediatric cancer, aged 7–17 years, who attended the Hematology-Oncology Unit of the First Department of Pediatrics, and healthy controls who visited the Centre for Adolescent Medicine and UNESCO Chair on Adolescent Health Care of ...

Background: A significant component of total linear growth is height gain achieved after the initiation of puberty. Children with Isolated GH Deficiency (IGHD) frequently come for evaluation around the peripubertal stage. Therefore, increasing pubertal height gain in IGHD children entering puberty with a relatively low height is important. Researchers have tried to assess effectiveness of treatment in such patients based on various key measurements and a variety of end-points....

Background: After 50 years of hGH use for GH deficient (GHD) children the definition of the adequate hGH substitution dose and response remain uncertain.Objective and hypotheses: We hypothesized that subjects with GHD caused by congenital pituitary defects constitute an ideal model for defining substitution dose of hGH. Consequently, an appropriate study group was formed and pertinent long-term data were retrospectively analyzed.Me...

Background: Hypothalamic hamartomas (HH) are congenital morphogenetic defects frequently associated with central precocious puberty (CPP).Objective and hypotheses: Data on the outcome of girls with CPP due to HH are limited.Method: We report two patients with CPP caused by HH, one with normal fertility.Results: Patient 1, now aged 33 years, was examined at age 15 months (vaginal bleeding, breast and pubic hai...

Introduction – Scope: Childhood cancer has an impact on the neurocognitive functions of growing children and adolescents. The aim of this study, which is the first of its kind in Greece, was to examine the differences in neurocognitive abilities between children and adolescents survivors of brain tumors (BT), and survivors of other types of cancer.Method: Study participants were cancer survivors aged 7 to 15 years,...

Background: DICER1 is an endoribonuclease that acts post-transcriptionally by processing mRNA into siRNA and microRNA, thus leading to mRNA downregulation. DICER1 syndrome is usually caused by germline variants and is characterized by a variety of benign or malignant tumors: pleuropulmonary blastoma, ovarian Sertoli-Leydig cell tumor, cystic nephroma, pituitary blastoma and multinodular goitre. Patients with germline aberrations in the DICER1 gene may carry additional...