Publications by authors named "J Bertherat"
Endogenous Cushing's syndrome (CS) refers to the manifestations of chronic cortisol excess. This rare disease is associated with multiple comorbidities, impaired quality of life, and increased mortality. The management of CS remains challenging.
View Article and Find Full Text PDFPurpose: Primary bilateral macronodular adrenal hyperplasia (PBMAH), the most common cause of Cushing's syndrome due to bilateral nodules, is a heterogeneous disease at the clinical, hormonal and morphological levels. ARMC5 inactivating pathogenic variants are causative of PBMAH and rare variants of PDE11A have been associated with PBMAH.
Methods: Leukocyte DNA of 354 PBMAH index cases was sequenced for ARMC5 and PDE11A genes by Next generation sequencing (NGS).
Objective: Adreno CorticoTropic Hormone (ACTH)-independent Cushing's syndrome (CS) in children is very rare but potentially fatal. In bilateral nodular hyperplasia, synchronous bilateral adrenalectomy (SBA) represents the definitive treatment to correct hypercortisolism. We aim to report the multidisciplinary management of this rare condition.
View Article and Find Full Text PDFArticle Synopsis
- This study aimed to improve the identification of malignancy risk and genetic status in patients with primary paraganglioma or pheochromocytoma (PPGL) by assessing various biomarkers.
- Conducted over four years with 231 patients, the study found that tumor analysis was better than germline testing for determining genetic status, with specific biomarkers like plasma succinate levels and miR-483-5p showing promise in predicting metastasis.
- The combination of biomarkers, such as SDHB immunostaining and TERT promoter methylation, significantly enhanced the predictive accuracy for both SDHx genetic status and metastatic potential.