ESPE Abstracts

Objectives: Preterm infants often present CH characterized by delayed TSH elevation. We describe the clinical and biochemical features and the evolution of CH in preterm infants with delayed TSH elevation, detected by the second screening for CH.Material and Methods: All preterm infants born between 2007 and 2014 negative to the first screening (b-TSH<10 mcU/ml) at 2–5 days of life and positive to the second screening at 12–33 days (b-TSH&#...

Background: The pathogenesis of type 1 diabetes (T1D) is multifactorial, caused by interaction of genetic, epigenetic and environmental factors that lead to the production of antibodies early on life and a gradual loss of insulin secretory capacity of the pancreas. The genetics and immunological characteristics of our T1D population have not been precisely identified.Objective and hypotheses: To compare biochemical, genetic and immunological features of ...

Background: Dietary patterns have notably changed in Mediterranean countries during the last decades. Mediterranean diet (MeDiet) is associated with lower prevalence of cardiometabolic diseases.Objective and hypotheses: To assess adherence to MeDiet in children and adolescents with abdominal obesity during a comprehensive weight loss intervention.Method: Children and adolescents with abdominal obesity (waist circumference >p90)...

Background: Congenital hypopituitarism is a rare cause of pituitary insufficiency (incidence: 12–42 new cases/million per year; prevalence: 300–455 cases/million). The aetiology remains largely unclear: the most frequently correlated genetic abnormalities are those involving transcription factors implicated in pituitary organogenesis. The phenotype and neuroradiological findings associated with the underlying genotype may be highly variable (from an isolated hypopitu...

Background: Septo-optic dysplasia (SOD) is a congenital, rare anomaly (1:10 000) associated with optic nerve hypoplasia, midline brain abnormalities and pituitary hormone abnormalities. Genetic alterations associated are: HESX1, SOX2 and SOX3. SOD’s pattern of growth even without GH treatment has been reported to be often good.Objective and hypotheses: Evaluate SOD’s growth in patients followed in our Centre.Method: See F...

Introduction: Craniopharyngiomas (CP) are benign, dysontogenic supra or intra-sellar tumours. They are locally aggressive with severe endocrine, neurological and ophthalmological implications. Somatotroph deficiencies rise therapeutic management problems due to increased risk of tumour growth and recurrence.Case report: Male patient, aged 18 years 4 months, born naturally, late-term (42 weeks, 3200 g, Apgar 7), third child in a brotherhood of four (appar...

Background: SHOX-D is rarely diagnosed in early infancy as cause of short stature.Objective and hypotheses: Describe clinical characteristics of two girls with an early diagnosis of Leri-Weill dyschondrosteosis, admitted to our hospital because of severe short stature.Method: Mutation screening of SHOX and its regulatory regions was performed by MLPA. Family analysis was undertaken.Results: The first 1.3 year...

Background: The European iNCGS registry aims to collect long-term safety and effectiveness information in paediatric patients receiving NutropinAq® for growth failure.Objective and hypotheses: To report patient baseline characteristics and exposure to NutropinAq® per country.Method: International, multicentre, open-label, non-interventional, post-marketing-surveillance study.Results: As of 31-Dec-20...

Background: Autoimmune hepatitis (AIH) and methimazole (MMI)-induced toxic hepatitis are both rare diseases in pediatric age.Case presentation: We present the case of a 15-year-old girl affected by idiopathic arthritis and autoimmune thyroiditis. The autoimmune thyroiditis was diagnosed at 13 years of age. At 15 years old she developed hyperthyroidism (TSH <0.01 mcU/ml, FT4 2.3 ng/dl, FT3 8.4 pg/ml, TRAb 18 IU/l) and was treated with MMI (0.28 mg/kg ...

Background: The periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome, is an autoinflammatory disease characterised by regularly recurrent fever episodes, due to seemingly unprovoked inflammation.Objective and hypotheses: The aim of the study was to assess serum 25-hydroxy cholecalciferol (25(OH)D) concentrations in children with PFAPA and to evaluate longitudinally the effect of wintertime supplementation on 25(OH)D st...