hrp0082p1-d2-25 | Autoimmune Endocrine Disease | ESPE2014

Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy: New Insights into Phenotype and Genotype*

Valenzise Mariella , Aversa Tommaso , Fierabracci Alessandra , Porcelli Paolo , Betterle Corrado , De Luca Filippo

Background: Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal-Distrophy (APECED) is a rare autosomal recessive disease, caused by mutations of AIRE gene on chromosome 21. It is characterized by three main diseases: chronic mucocutaneous candidiasis (CMC), chronic hypoparathyroidism (HP) and AddisonÂ’s disease (AD).Objective and hypotheses: In this paper we review the clinical phenotypes and the genotypes of pediatric Sicilian population affected b...

hrp0084p3-607 | Adrenals | ESPE2015

Homozygosity for a Mutation in the CYP11B2 Gene and GH Deficiency in a Child with Severe Growth Delay

Maggio Maria Cristina , Vergara Beatrice , Salvo Caterina , Porcelli Paolo , Fabiano Carmelo , Corsello Giovanni

Background: Isolated hypoaldosteronism is an autosomal recessive inherited disorder of terminal aldosterone synthesis, leading to selective aldosterone deficiency. Two different biochemical forms of this disease have been described, called aldosterone synthase deficiency or corticosterone methyl oxydase, types 1 and 2. In type 1, there is no aldosterone synthase activity and the 18 hydroxycorticosterone (18 OHB) level is low, whereas in type 2, a residual activity of aldostero...