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: 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...

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: 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: A high risk of congenital hypothyroidism (CH) has been documented in multiple pregnancies. Over the years special screening procedures for preterm and twin babies (re-screening at 2–4 weeks of life) have been adopted by many screening laboratories worldwide. However, no extensive studies have been performed to verify how many co-twins with negative test at first screening (3–5 days of life) become positive at re-screening, and the utility of a long-term f...

Background: Neonatal screening strategies revealed an increase in hypothyroidism associated with an in-situ thyroid gland due to TSH receptor (TSHR) mutations. While there are many genetic and functional studies regarding TSHR mutations, few are found concerning the clinical course and long-term outcome of TSH resistance involving the pediatric population.Objective and hypotheses: To determine the impact of TSHR mutations on clinical course, biochemical ...

Background: An important issue in the management of congenital hypothyroidism (CH) is the best initial dose of levothyroxine (L-T4) in order to achieve optimal neurocognitive outcomes. Both European and American guidelines suggest an initial dose of 10–15 μg/kg per die but trials on long-term effects of different doses within this range are lacking.Objective and hypotheses: This was a multicenter randomized trial to ev...

Background: The correct diagnosis of growth hormone deficiency (GHD) and the definition of growth response in the management of growth hormone (GH)-treated children is controversial.Objective and hypotheses: To evaluate: i) short-term and long-term efficacy of GH treatment; ii) various criteria commonly used to define poor response to GH therapy and compare them in the same cohort of GHD patients.Method: Our study includes 94 child...

Background: Short stature may represent a significant psychosocial problem. The rationale for GH treatment has traditionally rested upon the clinical improvement in terms of growth and well-being. Great importance is also associated with the adherence to the therapy.Objective and hypotheses: We have investigated the benefits obtained by GH treatment, the factors that positively influence growth, the differences between ‘objective’ and ‘sub...