Endocrine Abstracts

CNC is an autosomal dominant multiple neoplasia syndrome, responsible mainly for cardiac myxomas, pigmented skin lesions and endocrine tumors (acromegaly, thyroid and testicular neoplasms and primary pigmented nodular adrenocortical disease: PPNAD). The PRKAR1A gene was previously found to be mutated in about 41% of CNC kindreds. Most mutations lead to nonsens mediated mRNA decay and preclude expression of the mutant protein. 102 patients (64 with PPNAD and 38 with CNC)...

Context: The biological diagnosis of adrenal disorders is currently based on the quantitation of serum steroids using automated immunoassays. These direct assays often lack the required accuracy and precision and interlaboratory surveys show that performance characteristics of MSMS are far better than those of automated immunoassays.Method: After liquid chromatography of serum extracts, steroids were quantified on Waters QuattroPremier mass-spectrometer ...