ESPE Abstracts

A 5-year-old patient was brought by her parents toour pediatric endocrinology Outpatient clinic with history of progressive bilateral breast budding andenlargement since 3 months ago. . Her previous medical history were uneventful; there was no family history of precocious puberty. Parents were married, nonconsanguineous, she has 1 other sibling who is well . At presentation, our patient was a well looking girl, She had a full female phenotype: On initial physical examination ...

Glucose transporter 2(GLUT2), a transmembrane carrier protein that facilitates glucose movement across cell membranes, is an essential protein in carbohydrate metabolism. Mutation of SCL2A2 gene, which encodes this transporter, leads to a rare well- defined entity called glycogen storage disease type XI (GSD XI) also known as Fanconi Bickel syndrome. The result of this defect is hepatomegaly, proximal tubular dysfunction, fasting hypoglycemia, glucose intolerance, failure to t...