Differential Diagnosis
The patient presents with a complex set of symptoms and laboratory results, including hypoattenuating lesions on the left kidney, elevated cortisol and other hormone levels, and complicated ovarian cysts. Here is a differential diagnosis organized into categories:
- Single Most Likely Diagnosis
- Congenital Adrenal Hyperplasia (CAH): The elevated levels of 17-hydroxyprogesterone and DHEAS, along with the complicated ovarian cysts, suggest a possible diagnosis of CAH. This condition can lead to an overproduction of androgens, which may cause the ovarian cysts and other symptoms.
- Other Likely Diagnoses
- Polycystic Ovary Syndrome (PCOS): The presence of complicated ovarian cysts and elevated androgen levels (DHEAS) could also suggest PCOS. However, the specific pattern of hormone elevation and the kidney lesions make this less likely than CAH.
- Adrenal Tumor: The initial elevation in cortisol and ACTH could indicate an adrenal tumor. However, the subsequent decrease in cortisol and the lack of ACTH results make this diagnosis less clear.
- Do Not Miss Diagnoses
- Pheochromocytoma: Although less likely, given the normal blood pressure, pheochromocytoma can cause variable blood pressure readings and should be considered due to the potential for severe consequences if missed.
- Cushing's Syndrome: The initial elevated cortisol level suggests Cushing's syndrome, which could be caused by a variety of factors, including an adrenal tumor or ectopic ACTH production. The decrease in cortisol does not rule out this diagnosis, as cortisol levels can fluctuate.
- Rare Diagnoses
- Primary Pigmented Nodular Adrenocortical Disease (PPNAD): This rare condition can cause Cushing's syndrome and is associated with multiple small nodules in the adrenal glands. It is less likely but should be considered in the differential diagnosis due to the patient's hormone profile.
- McCune-Albright Syndrome: This syndrome includes a combination of precocious puberty, café-au-lait spots, and fibrous dysplasia of bone, along with a variety of endocrine disorders, including Cushing's syndrome. It is rare and would require additional symptoms for consideration.
Next Course of Action
Given the complex presentation, the next steps should include:
- Repeat and Extend Hormone Panel: Recheck cortisol and ACTH levels, and consider adding other hormones to the panel, such as aldosterone and renin, to further evaluate adrenal function.
- Imaging Studies: Perform a dedicated adrenal gland MRI or CT scan to evaluate for any tumors or abnormalities. Also, consider a pelvic MRI for better characterization of the ovarian cysts.
- Genetic Testing: If CAH is suspected, genetic testing for common CAH mutations may be helpful.
- Clinical Evaluation: Monitor blood pressure closely and evaluate for signs of Cushing's syndrome or other endocrine disorders.
- Referral to Specialist: Consider referral to an endocrinologist for further evaluation and management.