ESPE Abstracts

Iodide (I−) transport defect (ITD) is an autosomal recessive disorder caused by the inability of the thyroid follicular cell to actively accumulate iodide. Active I− accumulation is mediated by the Na+/I− symporter (NIS), an integral plasma membrane glycoprotein located on the basolateral surface of thyrocytes. The diagnostic criteria for ITD include a variable degree of hypothyroidism and goiter, low to absent thyr...

Introduction: Complete ALS deficiency (ALS-D), caused by inactivating mutations in both IGFALS gene alleles, presents severe IGF1 and IGFBP3 deficiencies associated to moderate growth retardation.Aim: To characterize the molecular defect in a family where the index case and his father presented short stature and IGF1 and IGFBP3 deficiencies.Methods: IGF1, IGFBP3, and GH serum levels were determined by CLIA, ALS by ELISA an...

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: Familiar isolated pituitary adenomas (FIPA) encompasses the familiar occurrence of isolated pituitary adenomas outside the setting of syndromic conditions such as MEN1 and Carney’s complex, and comprise about 2–3% of pituitary adenomas. About 20% of FIPA have mutations in the aryl hydrocarbon receptor interacting protein gene (AIP), usually associated with a worse outcome.Objective and hypotheses: Evaluate the presence of AIP gene m...

Managing Graves' disease (GD) should be simple. Stop the immune system from targeting the TSH receptor and the disease is cured. Unfortunately this is not yet feasible in most young people and GD is not a trivial condition for those affected. There are significant advantages and disadvantages of all current treatments with no easy way forwards for many and the family's decisions will reflect their perceptions of medical, radiation and surgical risk. The fact that two o...

Introduction: Primary congenital hypothyroidism (PCH), defined as thyroid hormone deficiency, can be viewed as an anatomical, clinical, biochemical and radiological spectrum.Its etiology includes thyroid dysgenesis (85%) with defects in thyroid gland development and thyroid dyshormonogenesis (15%) with inborn error of thyroxine synthesis or release.There is growing evidence that precise characterization of ...

Introduction: Wilms tumor is the most frequent pediatric renal malignancy and its usual presentation is an abdominal mass or hematuria. Unusual presentations have also been reported, such as paraneoplastic syndromes (acquired von Willebrand disease, sudden death due to pulmonary embolism and Cushing syndrome). These conditions can precede, occur concomitantly or present in a later phase of tumor development. Precocious puberty, as paraneoplastic endocrine synd...

Aim: The work was initiated to assess efficacy of training and achievement of therapy targets in children and adolescents with type 1 diabetes mellitus in ‘Diabetes Schools’.Method: The five-day training course was conducted in ‘Type 1 Diabetes School’ at the Scientific-Research Institute of Cardiology and Internal Diseases, Kazakhstan Public Health Ministry (Almaty). The training was conducted by means of a structured program contain...

Background: Disorders/differences of sex development (DSD) differ from other rare conditions which are often accompanied by significant morbidity and mortality. With limited exceptions, DSD are not life-threatening and do not predict a given level of physical health or health-related quality of life across the lifespan. The birth of a child with DSD is anxiety-provoking. Stressors include weathering drawn-out diagnostic testing, difficulty absorbing complex medical information...

Case Report: A preterm boy was born at 35 weeks gestational age by cesarean section due to fetal macrossomia and polyhydramnios, weight 4980g (4.3 SDS, Intergrowth 21st), length 53cm (3.1 SDS), 1-min-Apgar 2. He needed resuscitation after birth, and his glycemia was 20 mg/dL. At the Neonatal Intensive Care Unit (NICU), he presented with severe hypoglycemia (10mg/dL) and required intravenous glucose infusion rate (GIR) 10mg/kg/min that increased progressively u...