Endocrine Abstracts

Introduction: Homozygous familial hypercholesterolemia (HoFH) is a rare inherited autosomal dominant disease (1/20000 Individuals) involving germline mutations in the LDL metabolism pathways (LDL receptor/PCSK9/APOB/lDLRAP) that results in very high levels of LDLc, usually >10 mmol/l, and premature cardiovascular disease. The EAS guidelines recommend the use of PCSK9 inhibitors (PCSK9i) as a third line therapy in HoFH, however they report no precision regarding the effect ...

Introduction: SDH genes mutations are associated with hereditary phaeochromocytoma and paraganglioma syndromes. We describe the case of a patient with SDHC related familial paraganglioma and pituitary adenoma.Case: A 65-year old man consulted for an incidentally discovered 7 cm abdominal mass on CT-scan, lateral to the right kidney, invading inferior vena cava, associated to a retroperitoneal adenomegaly and a lesion on the body of L2 vertebra with spina...

Background: Klinefelter syndrome (KFS) is the most common chromosomal aberration in men, characterized by an extra-X chromosome (47, XXY). Besides the well-known reproductive defects, KFS is characterized by a 4-fold increase in metabolic syndrome, cardiovascular morbidity and mortality. The exact cause of this constellation remains unclear.Methods: Data from non-mosaic KFS adults and adolescents, evaluated in the endocrine unit of Lausanne University Ho...