ESPE Abstracts

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...

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...

The Easypod™ Connect Observational Study (ECOS) was the first global study of easypod™, currently the only electronic injection device for recombinant human growth hormone (r-hGH; Saizen®). ECOS reported accurate and robust real-time adherence data in a large cohort of patients. In this analysis, we assess the adherence of r-hGH administered via easypod™ in a cohort of Greek patients from ECOS (EMR200104-520, NCT01363674). Patients aged 2–18...

Background: Children and adolescents who have a gender identity that does not correlate with their assigned gender (based upon genital anatomy and chromosomes) are described as Gender-Dysphoric/Gender-Incongruent Persons (GD/gender incongruence) based on the ICD-11 classification of the World Health Organization.Objective: The case of a young teenager with Gender Dysphoria Disorder.Case presentation: A boy, aged 13 and 4/12 years, ...

Background: Patients who present with clinical and laboratory findings of pituitary dysfunction and whose MRI findings reveal increased pituitary size or thickening of pituitary stalk, pose a diagnostic challenge. The differential diagnosis mainly includes dysgerminoma, histiocytosis, and hypophysitis. A non-invasive approach is often non-diagnostic.Objective and hypotheses: To present two patients with similar clinical picture and positive MRI findings,...

Objective: To report the incidence of thyroid dysfunction of patients who underwent allogenic BMT during childhood.Patients and Methods: Eighty-two patients (56 boys) who were transplanted from an HLA matched donor at a mean age of 7.5±4.8 years (range 0.18–17.5 years) were followed prospectively having measurements of fT4, TSH twice yearly, using chemiluminescence. Patients with elevated TSH higher than 8 μIU/ml had a repeat evaluation in...

The epidemic spread of obesity in children has triggered the commitment of scientific research, which has allowed us to understand its genetic basis; the different forms of genetic obesity share common clinical aspects, making it difficult to achieve a molecular diagnosis based only on our clinical suspicion. We report a female patient presented with neonatal hypotonia, hyperphagia and early onset excessive weight gain, strabismus and high hypermetropia. Regarding her neurodev...

Obesity, with its complications, emerges as a major contributor to the global health burden becoming pandemic. It's an extremely complex disorder resulting of interaction of biological, social and behavioural factors that cause increase in food intake and reduction in energy expenditure. Although few monogenic forms and indeed several susceptibility loci have been described, the molecular basis underlying early onset obesity remain largely unknown. GWAS revealed consistent...

In Italy, treatment of children with CP is not centralized. We collected data of 117 patients (pts) (M/F 56/41) with CP diagnosed after 01/01/2000, followed-up in 14 centres of paediatric endocrinology belonging to the I.S.P.E.D. Five centres provided data on more than 10 pts (range 12-19), while the remaining on 1-9. 46 pts were diagnosed between 2000-2010 and 71 afterwards. Follow-up was 7.5±4.1 yrs.Results. Histology was adamanti...

We report a pediatric patient with an undiagnosed and complex medical manifestation who was shown to have paternal isodisomy at chromosome 7. Our case is a female patient presented for increasing overweight, parotid hemangioma and gastroesophageal reflux with laryngomalacia. She was born at 35+4 weeks of gestation and her birth weight, length and occipitofrontal circumference (OFC) were 2500 g, 49 cm and 33 cm, respectively. At the time of our visit she was 16 months old, ...