Endocrine Abstracts

Introduction: PCOS is the most frequent endocrine disorder in women of reproductive age but its diagnosis remains one of the most challenging issues in endocrinology, gynecology, and reproductive medicine. Cyclic Cushing’s syndrome (CS) is a rare disorder, characterized by repeated episodes of cortisol excess interspersed by periods of normal cortisol secretion.

History: 37 years old lady presented with weight gain for 2 years duration. She has noticed that her weight and hirsutism fluctuated significantly in cycles despite strict dieting and regular exercises, for which she visited many clinics for almost 2 years. She finally diagnosed as a case PCOS. Upon more history taking her weight increased by 20 kilograms mainly trunkal. There was no associated proximal myopathy. She was also complaining from amenorrhoea. There was no easy bruising, or striae.

Diagnosis and Treatment: On presentation BMI was 50 kg/m2 witht marked truncal obesity. Blood pressure was 160/80 mmHg and there were no other clinical stigmata of hypercortisolism. The diagnosis of PCOS was revised and possibility of Cushing’s syndrome kept in mind especially in setting high blood pressure and progressive weight-gain. 17-OHP and serum testosterone was normal. 24-hour urinary free cortisol excretion was high at 280 (normal<200 nmol/24 h) and overnight dexamethasone suppression test was normal too. These tests repeated after 4 weeks and were normal again. After another 6 weeks, patient continues to complain of more weight gain and appearance of few striae, here the tests repeated and both 24-hour urinary free cortisol and overnight dexamethasone suppression tests were positive (repeated twice) also midnight salivary cortisol level increased. 48 hr low dose Dexamethasone suppression test showed failure of cortisol suppression (Baseline 400 nmol/l; 48 hr 125 nmol/l) confirming endogenous hypercortisolism. High dose DST suppressed cortisol to 49 nmol/l confirming ACTH dependent Cushing Syndrome (ACTH 32 ng/L; normal range 0.1 to 47). Pituitary MRI demonstrated a 12×10 mm adenoma. Transphenoidal pituitary surgery was performed, however patient continue to have hypercortisolism after surgery, then she underwent radiotherapy and she received ketoconazole for controlling her cortisol level which continue to show fluctuations.

Conclusion: Cyclical Cushing Syndrome is a rare entity and often misdiagnosed. Cyclical manifestation of hypercortisolism symptoms and signs are suggestive of the diagnosis and endocrine testing during symptoms will help to reach the diagnosis. A high index of suspicion is crucial for diagnosis.