ESPE Abstracts

Objectives: The aims of this study were: (1) to evaluate the perception of children with GH Deficiency (GHD) and their parents, regarding their current and future predicted height, as well as the modulating factors; (2) to investigate the relation between perceptions of height and psychosocial functioning in children with GHD.Methods: The study group consists of 322 children/adolescents (219 boys) diagnosed with (isolated) GHD, treated with GH. The mean ...

Objectives: To describe the Health Related Quality of life (HrQoL) of children/adolescents with GH Deficiency (GHD) and to examine the effects of sociodemographic (i.e., patients’ age, sex and family socioeconomic status) and clinical characteristics (i.e. degree of short stature and duration of treatment) on HrQoL from patients’ and their parents’ perspectives. Associations between QoLISSY questionnaire and demographics were evaluated using Mann-Whitney or Krus...

Background: To date, six cases of 17p13.1 microduplications have been described in the literature. Intellectual disability is the core feature, together with minor facial dysmorphisms and obesity later in life, but a characteristic phenotype for 17p13.1 microduplication has not been delineated.Objective and hypothesis: We describe a young patient with a 422 Kb microduplication maternally inherited in 17p13.1, affected by mild intellectual disability and ...

Objectives: Assess the dose of levothyroxine in relation to TSH and FT4 levels at diagnosis of AHT in children with SH and OH.Methods: Eighty eight children (69 girls) with AHT were devised in regard with TSH and FT4 at diagnosis [SH-FT4 >0.9 ng/dl: Group 1: TSH: 4.5-7 mU/l, Group 2: TSH: 7-10 mU/l, Group 3: TSH: >10 mU/l and OH: Group 4: TSH>10 mU/l and FT4 ≤0.9 ng/dl]. Mean L-T4 dose was reported in μgr/Kg per day at diagnosis an...

Aim: To highlight the diagnosis of Hashitoxicosis and its distinction from Graves’s disease. Subjects with Hashimoto’s thyroiditis are often euthyroid or may experience subclinical or true hypothyroidism. However, in 5 to 10% of children, a transient phase of hyperthyroidism, called Hashitoxicosis, may occur.Patients-Methods: Three female patients, were referred at the ages of 61/12, 96/12 and 12...

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: The clinical phenotype of the chromosome 2q31 deletion syndrome consists of a variety of limb abnormalities and other skeletal defects, craniofacial dysmorhic features, developmental delay, and other not specific congenital anomalies.Objective and hypotheses: To describe a patient with 2q31.1 microdeletion syndrome and short stature, diagnosed with GH deficiency.Method: We describe a 5 years and 4 months girl with devel...

Background: A child with slow growth rate (<−2 SDS) polyuria and polydipsia warrants urgent investigation for hypothalamic–pituitary tumors.Objective and hypoyhesis: To present the case of a boy with slow growth rate, polyuria NAD polydipsia due to remnant craniopharyngeal duct.Method: Boy 11 years old, was evaluated because of short stature and slow growth rate documented for 2 years. He reported no headaches but he...

Background: Obesity is associated with alterations in glucose metabolism, often present from childhood.Objective and hypotheses: To assess the prevalence of glucose metabolism alterations and insulin resistance in a group of obese, otherwise healthy children and adolescents from Greece.Method: It is a retrospective study of 130 obese children and adolescents, 79 girls (61%), aged 5.4 to 15.2 years (mean±S.D.: 10...

Objective: To present the novel finding of hypergonadotropic hypogonadism, pubertal progress and molecular alterations in two sisters with variable phenotype.Case Presentation: Two Greek sisters were investigated. The eldest was referred for investigation of short stature, at the age of 9 and 5/12 years. There was no positive family history for short stature. Physical examination revealed no dysmorphic features, and she was prepubertal according to Tanne...