Hereditary glucocorticoid resistance

Abstract

Cortisol resistance in man has been diagnosed only in a few cases and families sofar. Since the first description in 1976 only about 30 patients and mostly asymptomatic family members with cortisol resistance have been described. To date, the molecular basis has been characterized in eight patients. In seven cases, mutations in the hormone binding domain of the glucocorticoid receptor gene were responsible for the clinical manifestations of cortisol resistance, while in one patient a mutation in the DNA-binding domain was found. Reports of a significant prevalence of possible cortisol resistance in patients attending the endocrine clinic for hypokalemia, hypertension, acne, hirsutism and menstrual disorders invites endocrinologists to carry out a thorough investigation for cortisol resistance in such patients.