Searchable abstracts of presentations at key conferences in endocrinology

ea0014p431 | (1) | ECE2007

Endocrine function in a 48,XXYY adult

Dubois Séverine , Illouz Fréderic , Laboureau Sandrine , Draunet Catherine , Rohmer Vincent , Guichet Agnès

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...

ea0014p97 | (1) | ECE2007

Localization of an ectopic adrenocorticotropin-secreting tumour using 18F- Dopa PET/CT

Dubois Séverine , Morel Olivier , Rodien Patrice , Jeanguillaume Christian , Enon Bernard , Illouz Frédéric , Saint-André Jean-Paul , Girault Sylvie , Rohmer Vincent

Ectopic adrenocorticotropin secretion (EAS) accounts for 10–15% of cases of Cushing’s syndrome and comprises a spectrum of lesions from highly malignant tumours to a variety of less aggressive neuroendocrine tumours. Selective removal of the primary lesion is the optimal management. It is therefore mandatory to localize the source of ectopic ACTH.As no single test is accurate enough to distinguish the ectopic from the pituitary sources of ACTH,...