What is the diagnosis for a 33-year-old female with a 5mm hypoattenuating lesion on the left kidney, potentially a cyst, elevated cortisol levels, and complicated ovarian cysts on the left ovary, with laboratory results showing hypercortisolism (elevated cortisol), elevated Dehydroepiandrosterone sulfate (DHEAS), elevated 17-hydroxyprogesterone, and elevated Adrenocorticotropic hormone (ACTH) levels?

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Differential Diagnosis

  • Single most likely diagnosis
    • Congenital Adrenal Hyperplasia (CAH): The patient's elevated 17-hydroxyprogesterone level is a strong indicator of CAH, which can cause adrenal hyperplasia and potentially lead to the development of adrenal rests or cysts in the kidneys and ovaries. The complicated ovarian cysts and the initial elevated cortisol and DHEAS levels also support this diagnosis.
  • Other Likely diagnoses
    • Polycystic Ovary Syndrome (PCOS): The presence of complicated ovarian cysts and the initial hormonal imbalance could be indicative of PCOS, which is often associated with hormonal disturbances and can have renal manifestations.
    • Adrenal incidentaloma: Although the primary focus is on the kidney lesions, the hormonal abnormalities could suggest an adrenal incidentaloma, which might not be directly related to the kidney lesions but could explain the hormonal findings.
  • Do Not Miss (ddxs that may not be likely, but would be deadly if missed.)
    • Pheochromocytoma: Although less likely, given the absence of specific symptoms like hypertension, pheochromocytoma can cause adrenal lesions and significant hormonal imbalances. Missing this diagnosis could have severe consequences.
    • Primary aldosteronism: This condition, characterized by excessive aldosterone production, can lead to hypertension and hypokalemia. While not directly linked to the kidney lesions, it's a critical diagnosis to consider due to its potential impact on cardiovascular health.
  • Rare diagnoses
    • McCune-Albright Syndrome: This rare genetic disorder can cause a variety of endocrine disorders, including Cushing's syndrome, and can be associated with renal and ovarian abnormalities.
    • Steroid cell tumors: These are rare tumors that can produce excess steroids, leading to hormonal imbalances. They could potentially explain the patient's findings, especially if the lesions are not definitively characterized as cysts.

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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