adrenal gland producing too much cortisol

Although we were not able to identify any new mutations, we believe that our patient has a variant of the glucocorticoid resistance syndrome.Ī 41-year-old female was referred to the Michigan State University (MSU) endocrinology clinic in 2008 for elevated 24-h urinary free cortisol which was presumably obtained to evaluate hirsutism and irregular menstrual cycles.

We report a case of glucocorticoid resistance, who did not have a recognizable mutation of hGR. Only about 30 separate probands have been reported so far. The latter is a rare syndrome characterized by high cortisol levels with no clinical stigmata of Cushing’s syndrome and has been attributed to mutations in the human glucocorticoid receptor (hGR) gene. In such cases, besides making sure that there is no lab error in the assay of cortisol, the diagnostic possibilities include pseudocushing’s, cyclic Cushing’s syndrome, and cortisol resistance syndrome. This situation presents a diagnostic challenge for the clinicians. However, sometimes patients present with hypercortisolism without any clinical features of Cushing’s syndrome. This syndrome should be considered in the differential diagnosis of patients who present with high levels of cortisol but have no clinical features of Cushing’s syndrome.Ĭushing’s syndrome, due to hypercortisolism, is a well-recognized clinical entity with easily identifiable clinical features. ConclusionsĪlthough we were not able to identify any new mutations, we believe that our patient has a variant of cortisol resistance syndrome. Genetic testing for human glucocorticoid receptor did not reveal any mutations.

Pituitary and adrenal imaging did not reveal any abnormalities. Despite significantly elevated cortisol levels, she did not develop any clinical signs or symptoms of Cushing’s syndrome. Adrenocorticotropic hormone (ACTH) levels were inappropriately elevated. Plasma cortisol levels were elevated and were not suppressed by conventional doses of dexamethasone on multiple occasions, but decreased following administration of higher doses of dexamethasone. Case presentationĪ 41 year old female presented with mild hirsutism and elevated urinary cortisol levels. Cortisol resistance syndrome is a very rare condition characterized by high cortisol levels, but without any clinical features of Cushing’s syndrome.

Adrenal gland producing too much cortisol