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What is PBMAH?
Primary bilateral macronodular adrenal hyperplasia (PBMAH) is a genetic disorder caused by changes (also known as mutations or disease-causing variants) in the ARMC5 gene which affects the adrenal glands found on top of each kidney. PBMAH is a form of Cushing syndrome, which is a disease caused by increased production of the hormone cortisol or its precursors. The main features of Cushing syndrome include weight gain, round face, fatty hump between the shoulders, weak muscles and other health complications. Usually, these symptoms present later in life, around 40 to 60 years of age. PBMAH causes less than 2% of cases of endogenous CS, which means the cause of disease is due to something in your body producing excess steroids. Overall, the prevalence of endogenous Cushing syndrome is 1 in 26,000 people.