Endocrine Abstracts

Introduction: Congenital central hypothyroidism (CH), is characterized by low levels of thyroid hormones and TSH. It is not possible to diagnose this condition by neonatal screening programs based on TSH measurements, hence it is often missed. The assumption that CH is usually a mild condition has been refuted, and more than 50% of all newborns with CH have moderate to severe disease. Early diagnosis and treatment lead to better neurodevelopmental outcomes. Isolated CH is a ra...

Introduction: Familial Chylomicronemia-FC syndrome is characterized by severely elevated triglyceride levels, i.e., levels of TG above 1000 mg/dl. Monogenic etiology is associated with a small but a significant fraction of Familial Chylomicronemia (FC) Syndrome cases, which is mainly attributed to a few genes, that are involved in Lipoprotein Lipase activity (LPL / LMF1 / APOC2 / GPIHBP1 / APOA5). Bi-allelic variants in these genes cause this rare Autosomal Recessive ...