ISSN 1662-4009 (online)

ey0018.8-2 | New Mechanisms | ESPEYB18

8.2. Kisspeptin deficiency leads to abnormal adrenal glands and excess steroid hormone secretion

A Berthon , N Settas , A Delaney , A Giannakou , A Demidowich , FR Faucz , SB Seminara , ME Chen , CA Stratakis

Hum Mol Genet. 2020 Dec 18;29(20): 3443–3450.https://pubmed.ncbi.nlm.nih.gov/33089319/The authors performed an experimental study in Kiss1 knock-out mice, followed by an observational study of patients with adrenal tumors. The findings indicate that KISS1/KISS1R signaling may be involved in obesity, metabolic disorders and even gonadal steroid hormone perturbations.<p class="abstex...

ey0020.6-15 | Reviews | ESPEYB20

6.15. Primary bilateral macronodular adrenal hyperplasia: Definitely a genetic disease

IP Cavalcante , A Berthon , MC Fragoso , M Reincke , CA Stratakis , B Ragazzon , J Bertherat

Brief summary: This narrative review summarizes the important progress made in the past 10 years in our understanding of the genetics of primary bilateral macronodular adrenal hyperplasia (PBMAH).Primary bilateral macronodular adrenal hyperplasia (PBMAH) is an adrenal cause of Cushing syndrome, attributed to the disrupted integrity of the adrenal cortex zonation that is important for steroidogenesis (1). Nowadays, the diagnosis of PBMAH ...

ey0016.8-3 | New Mechanisms | ESPEYB16

8.3. Steroidogenic differentiation and PKA signaling are programmed by histone methyltransferase EZH2 in the adrenal cortex

M Mathieu , C Drelon , S Rodriguez , H Tabbal , A Septier , C Damon-Soubeyrand , T Dumontet , A Berthon , I Sahut-Barnola , C Djari , M Batisse-Lignier , JC Pointud , D Richard , G Kerdivel , MA Calmejane , V Boeva , I Tauveron , AM Lefrancois-Martinez , A Martinez , P Val

To read the full abstract: Proc Natl Acad Sci USA. 2018; 115(52): E12265–E12274.The adrenal cortex plays a central role in regulating body homeostasis through the production of glucocorticoids and mineralocorticoids that control many important physiologic functions, such as metabolism, inflammation and arterial blood pressure. The production of these hormones, known as steroid...