Endocrine Abstracts

Background: Familial partial lipodystrophy type 2 (FPLD2) is an autosomal dominant inherited form of lipodystrophy due to mutation in the LMNA gene on chromosome 1q22. It is characterized by selective loss of subcutaneous adipose tissue from the limbs and trunk, with accumulation of fat in the neck and face, insulin resistance, diabetes mellitus and dyslipidemia.Objective: To study the clinical features and establish the molecular diagnosis of two subjec...

Introduction: Genetic predisposition with environmental factors plays a significant role in the development of type 2 diabetes mellitus. Among the diabetogenic genes, the transcription factor 7-like 2 (TCF7L2), a member of the Wnt signalling pathway remains the strongest genetic determinant of type 2 diabetes risk in humans. Our aim was to investigate whether TCF7L2 variants that have previously been associated with type2 diabetes would also confer risk for gestational diabete...

Background: The H-syndrome is a recently described very rare monogenic systemic autoinflammatory autosomal-recessive genodermatosis with young onset of diabetes without evidence of autoimmunity. It is caused by mutations in the SLC29A3 gene, which encodes the equilibrative nucleoside transporter hENT3.Objectives: To study the clinical features and confirm the genetic diagnosis in a subject with young onset of diabetes.Subject and m...