Glucocorticoid resistance syndrome: let’s give it a thought

Abstract

Abstract Background Generalized glucocorticoid resistance syndrome has a tremendously heterogenous and very broad clinical spectrum. This syndrome is caused by loss of glucocorticoid receptor (GR) function due to mutation leading impairment in GR signalling. It presents with hypercortisolism, hypertension, enlarged adrenal glands but no Cushingoid features. Extensive endocrinologic investigations and genetic analysis can determine this disease and help in managing the sequalae of this syndrome. We report this case after looking into its rarity and presentation which would give an insight about this disease. Case presentation A 26-year-old female presented with, hirsutism, acne, deep voice (which was patients main concern), hypercortisolism, raised testosterone, without features of Cushing’s. On examination she was normotensive, hirsutism and poorly developed breast with ambiguous genitalia. On investigation, she was found to have left adrenal mass, hypercortisolism and had resistance to dexamethasone suppression test. She underwent left open adrenalectomy followed by continued medication with dexamethasone. Conclusion This syndrome should be considered as a differential diagnosis in patients with hypercortisolism but without any features of Cushing’s syndrome. It is a difficult diagnosis for a urologist, endocrinologist help should be sought for better outcomes and adherence on long-term hormonal treatment.