What is the most likely cause of osteoporosis, generalized weakness, and proximal muscle wasting in a 29-year-old female with a history of fracture, hypertension, low hemoglobin (Hb) levels, elevated late night salivary cortisol levels, and elevated adrenocorticotropic hormone (ACTH) levels?

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Differential Diagnosis

The patient's presentation of hypertension, low hemoglobin, elevated late night salivary cortisol levels, and osteoporosis suggests an endocrine disorder. Here's a categorized differential diagnosis:

  • Single most likely diagnosis
    • Cushing's syndrome: The elevated late night salivary cortisol levels and the presence of hypertension, osteoporosis, and proximal muscle wasting are consistent with Cushing's syndrome. The elevated adrenocorticotropic hormone (ACTH) level suggests an ACTH-dependent cause, such as a pituitary adenoma.
  • Other Likely diagnoses
    • Primary aldosteronism: Although less likely, primary aldosteronism could explain the hypertension and osteoporosis. However, the elevated cortisol levels and ACTH level make this diagnosis less probable.
    • Hyperparathyroidism: This condition could contribute to the osteoporosis and elevated blood pressure, but it does not fully explain the patient's presentation, particularly the elevated cortisol levels.
  • Do Not Miss (ddxs that may not be likely, but would be deadly if missed.)
    • Pheochromocytoma: Although rare, pheochromocytoma can cause hypertension and could be deadly if missed. However, the patient's presentation does not strongly suggest this diagnosis.
    • Adrenal carcinoma: This rare tumor can produce excess cortisol and/or aldosterone, leading to Cushing's syndrome or primary aldosteronism. It is essential to consider this diagnosis due to its potential severity.
  • Rare diagnoses
    • Familial Cushing's syndrome: This rare genetic disorder can cause Cushing's syndrome, but it is less likely given the patient's age and lack of family history.
    • Ectopic ACTH-producing tumor: This rare condition can cause Cushing's syndrome, but it is often associated with other symptoms, such as weight loss and skin changes, which are not mentioned in the patient's presentation.

Professional Medical Disclaimer

This information is intended for healthcare professionals. Any medical decision-making should rely on clinical judgment and independently verified information. The content provided herein does not replace professional discretion and should be considered supplementary to established clinical guidelines. Healthcare providers should verify all information against primary literature and current practice standards before application in patient care. Dr.Oracle assumes no liability for clinical decisions based on this content.

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