[Familial cortisol resistance and mutations of the glucocorticoid receptor gene]

Patients with familial cortisol resistance have continuously elevated serum cortisol without any clinical manifestations of Cushing's syndrome due to hyposensitivity to cortisol in all tissues including the hypothalamus and the pituitary. Clinical symptoms of the disease are hypertension with hypokalemia and hyporeninemia, virilism in women and mild general fatigue. As the cause of the disease, a defect in glucocorticoid receptor affinity or binding capacity due to mutations in the glucocorticoid receptor gene has been reported. Another cause of the disease is the presence of heat labile glucocorticoid receptor. In 4 of 5 families with cortisol resistance reported so far, mutations of the glucocorticoid receptor gene have been demonstrated.