ESPE Abstracts

Introduction: International guidelines recommend puberty blocking using GnRH analogs and subsequent association with estrogen therapy in transgender girls who require for medical treatment. They have been shown to have a bone mineral density calculated as standard deviation score (BMD-SDS) for their assigned sex lower than the mean at baseline, and there is a potential risk of impairing peak bone mass as treatment result.Objectiv...

Introduction: Somatropin has been the standard treatment for Growth hormone deficiency (GHD) since 1985. Nowadays, has been approved for the treatment of other diseases, as: Small for gestational age (SGA), Turner syndrome (TS) and Prader-Willi syndrome (PWS).Aims: Assess the efficacy of somatropin in children followed in a tertiary Hospital, at 12 and 24 months of treatment, and to compare the results based on the patie...

McCune-Albright syndrome (MAS) is a rare disorder caused by somatic mutations in GNAS gene leading to fibrous dysplasia (FD), cafe-au-lait spots and hyperfunctioning endocrinopathies. The common feature of MAS in girls is peripheral precocious puberty (PP) with the recurrent ovary cysts. Few cases of ovary tumors have been described to date.8,5 year-old girl with MAS is closely observed in our centre since the age 4,5, when the diagnosis was est...

Background: In adults, insulin resistance is associated with vascular damage and progressive loss of the endothelial protective functions. Additionally, it further complicates the micro- and macro- vascular environment through increasing oxidative stress and inflammation.Aim: The purpose of this study was to evaluate how apoptosis and antioxidant markers are correlated with biochemical markers in children, during the glucose tolerance te...

Homozygous mutation of Insulin receptor (INS-R) gene cause an extremely rare disease called Leprechaunism, and induce intrauterine growth restriction with poor postnatal growth, hyperinsulinemia, postprandial hyperglycaemia, pre-prandial hypoglycaemia, typical facies, lack of subcutaneous fat, thick skin, hypertrichosis, macrogenitosomia in males. The survival is severely compromised in these patients. Treatment with diazoxide could ameliorate glycaemic control, however these ...

Background: Prader Willi Syndrome (PWS) is a rare genetic disorder with a wide range of symptoms manifestation. Main characteristics are hypotonia, growth retardation, feeding difficulties in neonatal period, increased appetite and obesity in childhood, delayed puberty or hypogonadism in adolescence. It is also associated with behavioral disturbances and impaired cognitive function. The genetic defect is located on the 15q11-13 chromosome.Objective and h...

Bakground: There is a dearth of data examining the direct costs of diabetes type 1 (T1DM) in Greece and their predictors.Objective and hypotheses: To examine the predictors of elevated direct costs of T1DM in the National Health System in Greece.Method: All patients diagnosed with T1DM, who were followed in the Diabetic Clinic of the University Pediatric Department of one of the two major Children’s hospitals in Athens, from 1...

Background: Achondroplasia and hypochondroplasia are more frequent types of skeletal dysplasia. De novo mutations in the fibroblast growth factor receptor 3 (FGFR3) gene are the principal cause. More than 95% of the cases of achondroplasia result from a mutation G1138A (Gly380Arg). In hypochondroplasia we usually (50–70%) found the change C1620A y C1620G, N540K (Asn540Lys).Objective and hypotheses: We describe an skeletal dysplasia...

Background: Studies have shown that genetic variations in the FSH pathway (SNPs: FSHB −211G>T, FSHR −29G>A, and FSHR 2039A>G) affect peripubertal levels of serum FSH and age at pubertal onset in girls.Objective and hypotheses: Genetic variations in the FSH pathway reflect circulating levels of female reproductive hormones during the postnatal gonadotropin surge.Method: Blood samples were taken in girls of th...

Background: The management of type 1 diabetes is complex, requires a multidisciplinary team and knowledge of the possible advantages of new technologies such as insulin bolus calculators.Aims and objectives: To assess if the use of an automated bolus calculator glucometer Accu-Check Aviva Expert® improves the diabetes control in paediatric patients in multiple daily injections (MDI). To identify which patients benefit most from its use.<p class=...