ESPE Abstracts

Background: Despite early detection and treatment, children with Congenital Hypothyroidism show subtle persisting deficits in various cognitive abilities. Degree and type of deficit reflect CH severity at time of diagnosis. We reported (Rovet et al., ATA, 2012) children with CH had abnormal cortical morphology, consistent with animal evidence showing early thyroid hormone (TH) insufficiency affects cortical development. It is not known, however, whether these cortical...

Background: Knowledge on multiple daily injections (MDI) and continuous subcutaneous insulin infusion (CSII) regimen impacts on the out-of-hours advice given to families of children with diabetes. As such, knowledge base and attitudes of senior medical staff particularly middle grades regarding insulin therapy is paramount.Objective: Assessing confidence levels of middle grade doctors to provide advice on insulin regimens. We conducted a questionnaire ba...

Introduction: Achondroplasia is the most common of the skeletal dysplasias and short stature with severe anatomic disproportion. Bone endochondrial growth is affected. The entity was described by Depaul in 1851 and the name which comes from the Greek word chondros (cartilage) and plasis (formation) was given by Parrot. It is an autosomal dominant monogenic disease with complete penetrance. Incidence is 1/25000 to 1/40000 of live births. It is caused by a mutat...

Background: Mutations in POU1F1 is a rare cause of combined pituitary hormone deficiency, which commonly includes GH, TSH and prolactin deficiencies and characterised by hypoplastic anterior pituitary.Objective and hypotheses: To present a case of severe short stature and developmental delay 1.5 years old girl, who was admitted to our hospital because of short stature.Method: Hypopituitarism panel’ genes were sequence...

A 2.6-year-old girl of Egyptian origins comes to our attention due to a deflection of the growth rate. The girl was born small for gestational age (SGA), and is affected by congenital hypothyroidism, with normal sized thyroid, treated with Levothyroxine. At the age of 1.8, due to right lameness, an x-ray of pelvis and lower limbs was performed, as indicated by the orthopaedic. The examination showed absence of the distal tibial ossification nucleus in the right leg and entangl...

Introduction: Central Precocious Puberty (CPP) has recently been described in patients with isolated or syndromic neurodevelopmental disorders, with greater attention from the scientific community. We carried out this study to compare the main aspects of non-isolated and isolated forms of CPP.Methods: We conducted a retrospective monocentric study, collecting all treated cases of CPP from 1st January 2013 to 31 December ...

Papillary cancer represents majority of thyroid malignancies in children. However prognosis remains very successful. In recent years, we use elastography, except biopsy and standard ultrasonography in thyroid lesions diagnostic. We present a case of a male patient at the age of 13 years, with a history of ADHD and school phobia who was referred to Endocrinology Outpatient Clinic due to partial empty sella syndrome. Family history of endocrinological disorders was negative. Ph...

Introduction: Blood transfusion and iron chelation are conventional treatments for β-thalassemia (BTM). Malnutrition affects the growth, efficacy of treatments, and quality of life in children suffering from BTM.Objective: To evaluate the prevalence of malnutrition (BMI < 3rd centile for age and sex) or BMISDS < -2 in 10 Mediterranean and Middle east countries and the USA in the past 20 years.  <p c...

Background: Ramadan fasting may influence metabolic control in Type 1 Diabetes Mellitus. Fructosamine is an accurate metabolic control in a short-term period. Comparison of fructosamine between intensive and conventional insulin regimen in T1DM children has not been widely studied.Objective: To compare fructosamine level between intensive and conventional insulin regimens during Ramadan Fasting in T1DM.Methods: Observational analyt...

Introduction:Blood transfusion and iron chelation are conventional treatments for β-thalassemia (BTM). Malnutrition negatively affects their growth, efficacy of treatments, and quality of life.Objective: To evaluate the nutritional status and linear growth in 10 countries in the past 20 years.Methods: We performed an electronic search in PubMed, Google Scholar, and Web of Scie...