ESPE Abstracts

Background: Isolated hyperreninemic hypoaldosteronism due to aldosterone synthase deficiency is a rare autosomal recessive disorder linked to aldosterone biosynthesis defect (involving CYP11B2 gene). Its clinical presentation varies with age: during the first weeks of life it usually presents with salt-wasting syndrome (with severe hyponatremia, hyperkalemia, metabolic acidosis, vomiting, signs of dehydration) while in children it is usually characterized by failure to thrive,...

Background: Gonadal dysgenesis may be rarely associated with precocious puberty (PP) and development of gonadoblastoma. In these patients cases of peripheral PP have been reported. On the contrary, a central PP has been very rarely described.Objective and hypotheses: To describe a female with central PP associated with a bilateral gonadoblastoma.Results: A 8 year and 5 month old phenotypically female child, presenting suspected PP ...

Background: 25-Hydroxyvitamin D (25(OH)D) deficiency is reported to be common in patients with rheumatoid arthritis and associated with disease activity, physical disability, and cardiometabolic intermediates; data in patients with juvenile idiopathic arthritis (JIA) are inconsistent.Objective and hypotheses: To assess serum 25(OH)D in children, adolescents, and young adults with JIA, and to identify the risk factors for vitamin D deficiency in JIA patie...

Background: Few studies have assessed 25-hydroxy vitamin D [25(OH)D] status among Italian children.Objective and hypotheses: To assess 25(OH)D in children and adolescents living in Tuscany, Italy, identifing risk factors for vitamin D deficiency in different age groups.Method: We evaluated 446 children children and adolescents (2.4–17.8 years), from Mugello (latitude 44° N), and we determined 25(OH)D, calcium, alkaline ph...

Background: Hypovitaminosis D is common in the general population. Although many studies on 25-hydroxyvitamin D (25(OH)D) are available on systemic lupus erythematosus (SLE), little data is present in juvenile onset SLE (JSLE) patients.Objective and hypotheses: This study aimed to assess serum 25(OH)D levels in JSLE patients and to identify risk factors for vitamin D deficiency in this population.Method: Forty-five consecutive Cauc...