Endocrine Abstracts

Within the group of gonosomal aneuploidy, the 47,XXY Klinefelter syndrome is a well-known chromosomal anomaly with a clearly delineated phenotype. Since the 48,XXYY polysomy is rather rare and associated with hypogenitalism, it has often been considered as a variant of the Klinefelter syndrome. Nevertheless, several differences have been reported, in particular the greater severity and prevalence of mental retardation and psychiatric illness in patients with a 48,XXYY syndrome...

Introduction: The French National Institute of Cancer (INCa) launched supported by the Ministry of Health in 2008 a program for the recognition of national networks for the management of rare cancers. Among the 23 selected networks COMETE-Cancer was recognized by INCa in 2009 for Adrenocortical carcinoma (ACC) and malignant pheochromocytoma/paraganglioma (MPP). At that time 60–120 new ACC/year and 30 new MPP/year were expected at the national level....

Context: Paragangliomas and pheochromocytomas (PPGL) are rare neuroendocrine tumors, characterized by a strong genetic component. Indeed, up to 40% of patients carry a germline mutation in a PPGL susceptibility gene. In accordance with the international recommendations, genotyping of PPGL susceptibility genes is therefore proposed to all patients with PPGL, but it has actually never been shown whether the identification of a germline mutation in one PPGL susceptibility gene ch...