Diagnostic challenges of Cushing’s syndrome in pregnancy

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SummaryWe report a rare case of Cushing's syndrome in a pregnant woman carrying twins. Interestingly, the patient did exhibit many of the classic clinical features typically associated with hypercortisolism, including Cushingoid facies, violaceous striae, insulin-dependent diabetes, raised central adiposity, chronic hypertension and peripheral myopathy. Her case was less straightforward given her previous gastric sleeve bariatric surgery, which led to rapid weight loss prior to pregnancy. The occurrence of an atraumatic fracture of the femoral neck in a young woman with a medical history of type 2 diabetes mellitus, chronic hypertension and possible severe osteoporosis raised clinical suspicion of a unifying diagnosis, prompting further evaluation.Biochemical testing, including elevated cortisol and suppressed adrenocorticotropic hormone levels, alongside imaging studies, confirmed the diagnosis of adrenal Cushing's syndrome. This case prompted a deeper investigation into the physiological changes of the hypothalamic-pituitary-adrenal axis during normal pregnancy, as well as the unique challenges in diagnosing and managing Cushing's syndrome during pregnancy.This case highlights the need for a high index of suspicion and a multidisciplinary approach in diagnosing and managing complex presentations in pregnancy. Early recognition and treatment of Cushing's syndrome are critical to optimising maternal and fetal outcomes.Cushing's syndrome during pregnancy is a rare but serious hormonal syndrome characterised by elevated cortisol levels. This hypercortisolism may be a result of functional adrenal or pituitary tumours, or iatrogenic. Though uncommon, it poses a significant threat to both maternal and fetal health due to the high risk of complications. This case study aims to provide a current overview of the diagnosis and management of Cushing's syndrome in pregnancy, with an emphasis on minimising associated maternal and fetal morbidity. The case report highlights missed differential diagnoses of Cushing's syndrome in the pre-pregnancy period despite the presence of type 2 diabetes, hypertension and morbid obesity in a young patient. Bariatric surgery further complicated the differential diagnosis.

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