ESPE Abstracts

Introduction: Allan–Herndon–Dudley syndrome is a rare X-linked inherited disorder characterized by, axial hypotonia, weakness, and severe intellectual disability1 Allan-Herndon-Dudley syndrome is caused by mutations in the SLC16A2 gene (also known as MCT8) This gene is located on the chromosome Xq13.2, mutations of the SLC16A2 gene lead to impaired making a protein that transports thyroid hormone triiodothyronine (T3) into nerve cells, for this re...

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...

Background: Wolfram syndrome is a rare autosomal recessive neurodegenerative disorder caused by mutations in the WFS1 gene. The WFS1 gene is active in cells of body, with highly expression in the, brain, lungs, heart, inner ear, and pancreas. Within cells, WFS1 gene encodes wolframin protein that is located in a structure of endoplasmic reticulum. Endoplasmic reticulum has critical role in protein folding and material transportation within the cell o...

The pituitary gland is a pea-sized organ located at the base of the brain. It synthesizes, and secretes, many hormones that control growth and development, and the functioning of the other endocrine glands. Panhypopituitarism is a condition of inadequate or absent production of all these hormones. LHX3 (LIM Homeobox 3) is a Protein-Coding gene involved in pituitary development. Mutations in this gene may result in a deficiency of multiple pituitary hormones. Here, we present a...