ISSN 1662-4009 (online)

ey0017.8-3 | Important for Clinical Practice | ESPEYB17

8.3. Frequency and incidence of Carney complex manifestations: A prospective multicenter study with a three-year follow-up

S Espiard , MC Vantyghem , G Assie , C Cardot-Bauters , G Raverot , F Brucker-Davis , F Archambeaud-Mouveroux , H Lefebvre , ML Nunes , A Tabarin , A Lienhardt , O Chabre , M Houang , M Bottineau , S Stroer , L Groussin , L Guignat , L Cabanes , A Feydy , F Bonnet , MO North , N Dupin , S Grabar , D Duboc , J Bertherat

To read the full abstract: J Clin Endocrinol Metab. 2020; 105(3): dgaa002. PMID: 31912137.Carney complex (CNC) is a rare multiple endocrine and nonendocrine neoplasia syndrome, described in 1985 by J. Aidan Carney (1). The diagnostic criteria include dermatologic manifestations (spotty skin pigmentation with typical periorificial distribution [known as lentigines], cutaneou...

ey0015.8-13 | New Genes | ESPEYB15

8.13 Activating PRKACB somatic mutation in cortisol-producing adenomas

S Espiard , MJ Knape , K Bathon , G Assié , M Rizk-Rabin , S Faillot , W Luscap-Rondof , D Abid , L Guignat , D Calebiro , FW Herberg , CA Stratakis , J Bertherat

To read the full abstract: JCI Insight. 2018; 3(8). pii: 98296Adrenocortical cells depend on cAMP/PKA signaling for growth and steroidogenesis. Several adrenal disorders manifesting with Cushing syndrome (CS) are due to activation of the PKA pathway, including Carney complex and primary pigmented nodular adrenal disease (due to germline mutations of PRKA1RA), McCune-Albright syndrome (due to ...