Scientists identify gene underlying food-dependent Cushing’s syndrome
The discovery will allow genetic screening for early detection of familial cases, an endocrine oncologist sayss
Mutations in the KDM1A gene are responsible for food-dependent Cushing’s syndrome, researchers report.
The rare disease caused by the abnormal expression of glucose-dependent insulinotropic peptide (GIP) receptors in both adrenal glands, is known as GIP-dependent primary bilateral macronodular adrenal hyperplasia (PBMAH).
Canadian and French researchers analysed data from 17 patients (median age 43, 88% women) with GIP-dependent PBMAH with Cushing’s syndrome.
They collected blood and adrenal samples from those who had undergone unilateral or bilateral adrenalectomy for the condition.
