ESPE Abstracts

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...

Background: 46XY DSD with female phenotype is classified as complete gonadal dysgenesis (46XY CGD) if a uterus is present or a disorder of androgen synthesis or action if a uterus is absent. The genetic causes of 46XY CGD are not fully clarified. Less than 15% of the cases were found to carry mutations of the sex determining region Y gene (SRY).Purpose: The description of the rare case of two sisters affected of 46XY CPD and gonadoblastoma with SRY mutat...

Background: The natural evolution of euthyroid Hashimoto thyroiditis (HT) varies among children and treatment in children with HT and normal/mild elevated serum TSH is controversial.Objective and hypotheses: The aim was to study the natural course of HT in children and evaluate predictive factors of thyroid functionMethod: We evaluated data from 87 children retrospectively (63 girls, 24 boys), mean age 10.6±3.2yrs, with HT [an...

Background: Non Hodgkin lymphoma (NHL) is the fourth most common malignancy in childhood. Chemotherapy constitutes the first line treatment and may cause several endocrine side effects (growth retardation, hypergonadotrophic hypogonadism, bone mass loss and rarely secondary malignancy). In total of 1–2% of children may harbour thyroid nodules. The most common risk factors are: irradiation, female sex, iodine deficiency, puberty and past medical history of thyroid disease....

Background: The association of primary hypothyroidism and isosexual precocious pseudopuberty in females was first described in 1960 by Van Wyk and Grumbach. The unique elements that lead to the diagnosis are FSH-dominated sexual precocity with non advanced bone age in the presence of hypothyroidism.Objective and methods: Describe an 8.5 years old girl with hypothyroidism due to HT and clinical and hormonal features of Van-Wyk and Grumbach syndrome.<p...

Background: Type 1 diabetes (T1DM) is a chronic disease with increasing incidence and major impact on the health care costs.Objective and hypotheses: To estimate the direct cost of pediatric T1DM in the Greek National Health System (NHS) and its distribution by service category.Method: This is a retrospective cost-of-illness study, focusing on the direct costs from the healthcare system’s point of view. All patients aged 0&#15...

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: Children’s and parents’ expectations regarding GH therapy results have been previously assessed. However, there are limited data on children’s and adolescents perceptions of their own body size as compared with that of their age-related peers, as well as their expectations of their final stature.Objective and hypotheses: To evaluate the perceptions of GH treated children and their families for the child’s stature and to as...