A Challenging Diagnosis of Cushing's Syndrome in Primary Care: A Case Report.

Source: PubMed, NCBI / U.S. National Library of Medicine

Cushing's syndrome is a rare endocrine disorder characterized by an insidious course and multisystem manifestations, often leading to delayed diagnosis due to its nonspecific presentation. A 52-year-old woman with a history of type 2 diabetes mellitus and hypertension was followed in primary care for persistent musculoskeletal pain and worsening metabolic control, initially attributed to poor treatment adherence. Her condition progressively led to significant functional impairment, requiring the use of crutches for ambulation and ultimately resulting in medical retirement due to disability. After presenting with abdominal pain, a computed tomography scan incidentally revealed a 35 mm left adrenal mass suggestive of an adenoma. In light of the clinical context, further evaluation confirmed adrenocorticotropic hormone (ACTH)-independent hypercortisolism. The patient underwent left adrenalectomy and remains under clinical follow-up, with progressive improvement in metabolic parameters and functional status. This case highlights the importance of reassessing persistent symptoms and appropriately evaluating incidental findings in primary care, as well as the potential for significant functional decline in undiagnosed cases. Early recognition of atypical presentations may facilitate the diagnosis of rare endocrine disorders.