Delayed Diagnosis in Hypercortisolism

In this episode, ‘Delayed Diagnosis in Hypercortisolism,’ the expert endocrinologists explore why patients with hypercortisolism often experience prolonged diagnostic delays despite presenting with progressive symptoms and worsening comorbidities. The panelists discuss how many patients report years of symptoms and multiple physician visits before receiving a diagnosis, reflecting the complexity of recognizing a rare and heterogeneous condition in real-world practice.

The panel of experts examines several factors that contribute to delayed diagnosis, including gradual symptom progression, overlap with metabolic syndrome and type 2 diabetes, and the absence of clearly pathognomonic physical findings in many patients. They highlight that although findings such as wide violaceous striae may strongly suggest cortisol excess, most clinical features are shared with more common conditions, making it difficult to determine when further evaluation is warranted.

The discussion also addresses the complexity of diagnostic testing, including the lack of a single test with perfect sensitivity or specificity, the potential for false-positive results, and the challenges posed by cyclic or variable cortisol secretion. Panelists also explore how non-neoplastic hypercortisolism, severe obesity, depression, alcohol use disorder, sleep apnea, and other conditions can complicate the diagnostic process.

Throughout the episode, the faculty emphasize the importance of maintaining clinical suspicion in patients with difficult-to-manage type 2 diabetes and evolving comorbidities. They also discuss the potential consequences of delayed diagnosis, including persistent metabolic dysfunction, cardiovascular risk, and increased mortality when the underlying source of cortisol excess is not identified and addressed.

The next episode in this series, ‘Clinical Impact of Hypercortisolism and Early Intervention,’ features the panelists discussing the long-term metabolic and cardiovascular consequences of sustained cortisol excess and the burden of delayed diagnosis. The panel of experts also explore how earlier identification and treatment may improve morbidity, mortality, and overall patient outcomes.