ESPE Abstracts

Background: In female patients with cystic fibrosis (CF), female sex predisposes to the progression and worsening of lung function, which increases the incidence of acute exacerbations, and leads to the earlier bacterial colonization of Pseudomonas aeruginosa. The negative effect of estrogens on the clinical course of CF in girls begins to manifest with the onset of puberty and the appearance of secondary sexual characteristics. On the cellular-level estrogens affect: 1.) immu...

Background: Autoimmune polyendocrine syndrome (APS) type 1 is a rare autosomal recessive disease. The classic features are chronic mucocutaneous candidiasis, hypoparathyroidism and adrenocortical failure. Several non-classic presentations of the disease has been described over the last few years. Authors present a case of 14-year old girl with a new serious non-classic presentation.Case presentation: Patient was diagnosed with a mucocutaneous candidiasis...

Background: Congenital hyperinsulinism (CHI) is the most common cause of the persistent hypoglycemia in children and occurs in approximately 1 in 50,000 live births. Genetic testing provides information on the pancreatic histological subtype (i.e. focal vs diffuse) and determines further management and prognosis of the patients. At least 11 known monogenic forms and several syndromes have been associated with CHI. Mutations in ABCC8 and KCNJ11 genes coding pot...