ESPE Abstracts

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...

Background: Treatment compliance is one of the most important practical aspects in long-term treatments such as GH therapy.Objective and hypotheses: To evaluate the level of compliance and its association with duration of treatment and other demographic factors.Method: A prospective study with the use of validated questionnaires was conducted in the Endocrinology Department of one of the two main Pediatric Hospitals in Athens. The ...

Background: Coping with a chronic medical condition requiring prolonged treatment may have an effect on psychological adaptation and self-esteem of patients.Objective and hypotheses: To identify key factors that influence self-perception and well-being in children and adolescents on GH therapy.Method: A prospective study with the use of validated questionnaires SPP (the Greek version). The patient cohort included 272 Greek children...

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...

Background: Autoimmune destruction of the adrenal cortex is the cause of primary adrenal insufficiency in 45% to 55% of cases in children.Case presentation: A 10-year and 10-month-old female was admitted to the Pediatric Endocrinology Clinic for evaluation of suspected adrenal insufficiency. The girl reported longstanding complaints of fatigue, loss of appetite, recurrent gastric symptoms and salt craving. Medical history was significant...

Objective: Compare HOMA-IR between obese and normal weight children.Methods: 292 children (156 females), BMI (≥0SD), Tanner stage 1/>2: 163/129, divided in four groups (Group 1: 0SD<BMI<2SD, Group 2: 2SD≤BMI<2.25SD, Group 3: 2.25SD≤BMI<2.5SD, Group 4: BMI≥2.5SD) were analyzed retrospectively from the medical records. Age, sex, fasting blood glucose and insulin as well as the ho...

Objective: Compare triglycerides, total cholesterol, HDL and LDL levels between obese and normal weight children.Methods: 547 children (286 females) with BMI (≥0SD) were divided in four groups (Group 1: 0SD<BMI<2SD, Group 2: 2SD≤BMI<2.25SD, Group 3: 2.25SD≤BMI<2.5SD, Group 4: BMI≥2.5SD) and analyzed retrospectively from the medical records. Age, sex, BMI z-score, triglycerides, tot...

Aim: To highlight the role of in-vivo magnetic resonance spectroscopy (MRS), as a non-invasive tool that can clarify the specific etiology of a sellar tumour in a boy with precocious puberty.Case presentation: A 4-year-old boy was admitted due to repeated episodes of focal seizures with fixed gaze, head turn to the right, and postictal drowsiness. Parents reported episodes of inappropriate laughter ("gelastic seizures") in the pr...