Peggy Pierre

TL;DR: Germline mutations in MAX are responsible for 1.12% of PCC/PGL in patients without evidence of other known mutations and should be considered in the genetic work-up of these patients.

TL;DR: The data suggest that early knowledge of genetic status had a positive impact on the management and clinical outcome of patients with a germline SDHx or VHL mutation.

TL;DR: The 5% prevalence of heterozygous NR3C1 mutations discovered in this series is higher than initially thought and encourages GR mutation screening in patients with adrenal incidentalomas to unambiguously differentiate from Cushing's states and to optimize personalized follow-up.

TL;DR: It is revealed that over 50% of the oncocytic adrenocortical tumor cases were diagnosed as carcinoma whatever the classification systems used, including the Lin–Weiss–Bisceglia score, and the exception is the Helsinki score, which incorporates the Ki-67 proliferation index and was the most specific prognostic score without showing a loss in sensitivity.

TL;DR: Due to the high prevalence of TART in classical CAH and the delayed clinical diagnosis, testicular ultrasonography must be performed before puberty and thereafter regularly during adulthood even if the clinical examination is normal.