Endocrine Abstracts

Introduction: Thiamine responsive megaloblastic anemia syndrome(TRMA), is an autosomal recessive disorder due to mutation of gene (SLC19A2) encoding thiamine transporter protein TRMA ischaracterized by a triad of anemia, diabetes mellitus, and sensorineural deafness.Case report: A 15 year old girl admitted to the ERwith diabetic ketoacidosis. She was diagnosed as neonatal diabetesat the age of 16 months and wasput on insulin therapy. Her parents arehealt...

Introduction: Androgen insensitivity syndrome (AIS), also known as testicular feminization, encompasses a wide range of phenotypes that are caused by numerous different mutations in the androgen receptor gene. where there is resistance to androgen actions influencing both the morphogenesis and differentiation of androgen responsive body structures AIS is an X-linked recessive disorder. This disorder includes a spectrum of changes ranging from male infertility to completely nor...

Introduction: Autoimmune polyglandular syndrome (APS) is a rare disease, that is defined by the presence of two or more glandular insufficiencies caused by autoimmune mechanisms and that may be associated with other pathologies and immunological phenomena. It is characterized by the Presence of circulating organ specific antibodies and lymphocytic infiltration of the affected gland.Case report: A 38-year-old female known to have autoimmune polyglandular ...