ESPE Abstracts

Background: Costello syndrome may be associated with Hyperinsulinaemic Hypoglycaemia (HI), but this is usually a mild medically-responsive form.Objective and hypotheses: To describe the clinical characteristics, biochemical findings and challenging management of a case of Costello syndrome with severe HI.Method: Review of the patient’s medical records.Results: Male, born to non-consanguineous healthy par...

Background: IGF1R mutations are characterized by IGF-1 resistance causing impaired fetal and postnatal growth. Several reports in children with heterozygous defects of IGF1R have demonstrated a variable phenotype, which can be associated to microcephaly, dismorphic features and mild developmental delay.Case presentation: We report of an 8-years-old boy, who came at our observation with short stature (−3.2 SDS) and mild microcephal...

Background: Small for gestational age (SGA) children who experience rapid and exaggerated postnatal catch-up are prone to develop insulin resistance and to progress faster into puberty, resulting in a shorter final height. Short, non-catch-up SGA children treated with recombinant human GH (rhGH) may present with the same sequence. In a previous controlled study from our group performed in short SGA children, metformin – added to rhGH therapy – improved endocrine-meta...

Background: The combination of type 1 diabetes mellitus (T1DM) and GH deficiency is uncommon. In a previous study (1) we found that in children with T1DM and GHD with adequate adaptation of insulin dosage, the metabolic control of T1DM did not worsen during GH treatment. However, decreased catch-up growth was observed and no data on GH dose was available.Objective: To analyse first year treatment growth response and GH dosage in prepubertal patients with...

Objective and hypotheses: The purpose was to get the basic data of optimum serum concentration of estrogen in maximizing pubertal growth spurt, and decreasing the acceleration of epiphyseal closure of long bones.Method: i) Fifteen female SD rats (13-week aged; post pubertal growth spurt) were randomly divided into three groups. After 1 week, the group 1 were injected subcutaneously with sesame oil, as a control, group 2 were with 10 μg/kg per week o...

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: Macro TSH is a high molecule weighed complex with low bioactivity that is comprised of TSH and anti-TSH antibodies. Potentiality of macro TSH should be kept in mind in clinically euthyroid and asymptomatic patients with normal free T4 and T3 levels and relatively high TSH levels. Diagnosis of macro TSH is suspected if polyethylene glycol (PEG) precipitable TSH exceeds %75 and confirmed if high molecule weighed TSH is shown with gel filtration ...

Background: Atrioventricular (AV) conduction defects are rare but significant complications of hyperthyroidism. Beta-blockers and co-existent infection further increase the risk of such conduction abnormalities.Objective and hypotheses: We report the case of a 10-year old girl treated for tachycardia and hypertension associated with hyperthyroidism who developed symptomatic 2:1 heart block.Method: Our patient presented with a histo...

Background: Dystopia thyroid is an anomaly of development and is the result of a violation of embryogenesis and often remains unrecognized, the true frequency of the dystopia of the thyroid gland is not known, described 800 cases of ectopic thyroid gland in the region of blind holes of the tongue in adults and 80 cases in children, half of them diagnosed congenital hypothyroidism.Objective and hypotheses: To reveal some features in the diagnosis and trea...

Background: Studies have suggested that sirolimus might be diabetogenic, mostly in kidney transplant recipients. Sirolimus has now been shown to be effective in the management of patients with congenital hyperinsulinism (CHI). However to date, there are no publications regarding the diabetogenic effect of Sirolimus in CHI patients.Objective and hypotheses: To report the first case of sirolimus precipitating diabetes in a CHI patient with known genetic mu...