Searchable abstracts of presentations at key conferences in endocrinology

ea0029s15.3 | Adrenal cancer | ICEECE2012

Genetics of micronodular hyperplasias (associated with Cushing syndrome)

Stratakis C.

The overwhelming majority of benign lesions of the adrenal cortex (AC) leading to Cushing syndrome (CS) are linked to one or another abnormality of the cAMP signaling pathway. Benign adrenocortical causes of CS include the common and sporadic cortisol-producing adenoma (CPA) and a spectrum of corticotropin (ACTH)-independent, and almost always bilateral, hyperplasias. Macro-hyperplasias are more common among older patients, whereas micro-hyperplasias are frequent among childre...

ea0029oc7.2 | Adrenal Clinical | ICEECE2012

Activation of the PKA pathway triggers formation of an illicit serotonergic regulatory loop in primary pigmented nodular adrenal disease (PPNAD) tissues associated with Cushing’s syndrome

Bram Z. , Renouf S. , Duparc C. , Ragazzon B. , Libe R. , Martinez A. , Stratakis C. , Bertherat J. , Louiset E. , Lefebvre H.

In the normal adrenal gland, serotonin (5-HT) stimulates cortisol secretion through activation of 5-HT4 receptors whereas, in some macronodular adrenal hyperplasia tissues, the corticotropic effect of 5-HT is mediated by ectopic 5-HT7 receptors. The aim of the present study was to investigate the role of 5-HT in the control of cortisol secretion in PPNAD tissues from 12 patients by using molecular, immunohistochemical and pharmacological approaches. RT-PCR studies revealed ove...

ea0012oc13 | Placenta, bone and genetics | SFE2006

A kindred with Carney Complex due to a novel PRKAR1A gene mutation (c1067_1070 del AACG ins GCCCA)

Strey C , Randall J , Conroy S , Horvath A , Weissberg P , Berman L , Dixon A , Hoffman G , Cooper J , Firth H , Wood D , Simpson H , Chatterjee K , Stratakis C , Melvin A , Gurnell M

RP (a 60 yr-old male) was found to have multiple atrial myxomata, whilst being investigated for recurrent attacks of amaurosis fugax affecting his left eye. During the preceding twenty years he had undergone repeated resections of cutaneous tumours, which were reported as neurofibromata. A clinical diagnosis of Carney Complex (CNC) was made based on the presence of multiple cutaneous nodules and atrial myxomata. RP displayed mild acromegalic features, but no pigmentation abnor...