ESPE Abstracts

Background: Marfan syndrome is an autosomal dominant genetic disorder with skeletal, cardiac, and ocular involvement. Mutations in the fibrillin-1 gene on chromosome 15 are responsible for the development of the syndrome.Objective: To present one case of neonatal Marfan syndrome.Case: The patient was a 1-day-old female neonate who was born at 36 weeks gestation via normal delivery. Her body weight was 2900 g and height 48 cm. Ultra...

Background: Childhood onset PTC has a more aggressive presentation but no overall increase in mortality compared to adults.Objective: To characterize a pediatric cohort with PTC at diagnosis using the American Thyroid Association (ATA) Initial Risk Stratification (IRS) and to evaluate the response to initial treatment until 3 years based on the modified ATA Dynamic Risk Stratification (DRS) for adults.<p class="abste...

Introduction: PGD is characterized by hyperthyroidism and antibodies against the TSH receptor (TSHRAB). Reported annual incidence is 4,58/100,000.Objective: To describe an Argentinean cohort with PGD followed between 2006 and 2020 at the Ricardo Gutierrez Children’s Hospital.Material and Methods: Retrospective study of 69 patients, who were treated initially with antithyroid ...

Introduction: Residual C-peptide secretion has been associated with less hypoglycemic events and lower glycemic variability in patients with Diabetes Mellitus type 1 (DM1), primarily in adults. The authors sought to evaluate the association between residual C-peptide secretion in pediatric patients with DM1 and glycemic control variables.Methods: Cross-sectional study conducted in a level II hospital, in DM1 patients you...

11-year-old female, admitted in the emergency room due to postprandial hyperglycemia (350 mg/dL) in her father´s glucometer without ketosis or acidosis. She referred one-month evolution of mild symptoms, as polydipsia, polyuria, sporadic abdominal pain and nocturia.She was the first child of non-consanguineous parents, born full term at vaginal delivery with a birth weight of 3760g (90th percentile). Since 5-years-old her weight was betwe...

Introduction: Graves’ disease (GD), the main cause of hyperthyroidism in children, is caused by thyrotropin receptor stimulating autoantibodies (TRABs) that activate thyroid hormone synthesis, secretion and thyroid growth. Therapeutic options are anti-thyroid drugs (ATD), 131-I or thyroidectomy. This study reports the experience of a Tertiary Pediatric Endocrinology Unit.Methods: Review of GD patients diagnosed from January/2001 to October/2017. Res...

Background: Pseudohypoaldosteronism type 1 (PHA1) is a rare syndrome characterized by unresponsiveness or resistance to the action of aldosterone. It manifests with persistent salt loss, resulting in hyponatremia, hyperkalemia and metabolic acidosis. High levels of aldosterone and renin activity, confirms the diagnosis. When the inheritance pattern is autosomal recessive it expresses as a severe systemic disease. Often occurs in the neonatal period and presents with recurrent ...

Background: In 2011, ATA and AACE published Guidelines on pediatric Graves’ disease (GD) treatment. Nevertheless it is still a controversy.Objective and hypotheses: SPEDP conducted the first nationwide questionnaire survey among all the Endocrinologists and Pediatricians in the Portuguese Public Health System Hospitals about pediatric GD treatment in order to know the reality in our country.Method: SPEDP designed and distribut...

Background: Iodine deficiency is the main cause of endemic goitre. A total of 29.8% of the world’s school-age children insufficient iodine intake. A population is deemed iodine-sufficient when median iodine levels are over 100 μg/l; measured iodine deficiency serves as a diagnostic criterion for determining the extent to which goitre is endemic, and also as an indicator of the gradual eradication of iodine-deficiency disorders.Patients, materia...

Background: Achondroplasia and hypochondroplasia are more frequent types of skeletal dysplasia. De novo mutations in the fibroblast growth factor receptor 3 (FGFR3) gene are the principal cause. More than 95% of the cases of achondroplasia result from a mutation G1138A (Gly380Arg). In hypochondroplasia we usually (50–70%) found the change C1620A y C1620G, N540K (Asn540Lys).Objective and hypotheses: We describe an skeletal dysplasia...