Differential Diagnosis
The combination of behavioral disturbance, PCOS, dermatological lesions, liver disease, electrolyte abnormality, and nephrolithiasis suggests a complex syndrome with multi-system involvement. Here's a categorized differential diagnosis:
Single most likely diagnosis
- Polycystic Ovary Syndrome (PCOS) with associated conditions: This diagnosis is likely due to the presence of PCOS, which is often associated with metabolic syndrome, insulin resistance, and other endocrine disorders that could explain the liver disease and electrolyte abnormalities. The dermatological lesions could be related to acne or hirsutism, common in PCOS. However, the inclusion of behavioral disturbance and nephrolithiasis suggests that other factors or associated conditions might be at play.
Other Likely diagnoses
- Cushing's syndrome: This endocrine disorder can cause a variety of symptoms including weight gain, hirsutism, acne, and menstrual irregularities that overlap with PCOS. It can also lead to mood changes, liver enzyme elevations, and potentially electrolyte imbalances due to its effects on cortisol levels.
- Hyperandrogenism due to other causes (e.g., congenital adrenal hyperplasia): Similar to PCOS, these conditions can cause hirsutism, acne, and male pattern baldness, but may also have specific electrolyte abnormalities and could potentially lead to nephrolithiasis due to metabolic disturbances.
Do Not Miss (ddxs that may not be likely, but would be deadly if missed.)
- Porphyrias: A group of disorders that can cause neurological symptoms, psychiatric disturbances, and dermatological lesions upon sun exposure. Some forms can lead to acute intermittent porphyria, which is a medical emergency. Although less common, the combination of neurological/psychiatric symptoms with dermatological findings makes this a critical diagnosis not to miss.
- Wilson's Disease: An inherited disorder that leads to copper accumulation in the body, causing liver disease, psychiatric symptoms, and potentially dermatological manifestations. It's crucial to diagnose early as it can lead to severe liver damage and death if untreated.
Rare diagnoses
- Multiple Endocrine Neoplasia (MEN) syndromes: These are hereditary conditions characterized by the occurrence of tumors in multiple endocrine glands. Some types could potentially explain the combination of endocrine disturbances, including PCOS-like symptoms, and other systemic findings.
- Autoimmune Polyendocrine Syndromes (APS): These are rare conditions where the immune system attacks multiple endocrine glands, potentially leading to a wide range of symptoms including those described. They are less likely but could explain a complex presentation involving multiple systems.