Differential Diagnosis for 18-year-old Female with Skipped Menses, Acne, and Mild Hirsutism
- Single Most Likely Diagnosis
- Polycystic Ovary Syndrome (PCOS): The patient's presentation of skipped menses, acne vulgaris, mild hirsutism, and elevated total testosterone level is consistent with PCOS. The normal BMI, slightly elevated fasting insulin, and normal A1C also support this diagnosis, as insulin resistance is a common feature of PCOS.
- Other Likely Diagnoses
- Functional Hypothalamic Amenorrhea: Although the patient has some features of PCOS, functional hypothalamic amenorrhea could also be considered, especially if stress or significant weight changes have occurred. However, the presence of acne and hirsutism leans more towards PCOS.
- Idiopathic Hyperandrogenism: This condition presents with hyperandrogenism (elevated testosterone) without the classic features of PCOS, such as cysts on the ovaries or insulin resistance. However, given the patient's menstrual irregularity, PCOS is more likely.
- Do Not Miss Diagnoses
- Congenital Adrenal Hyperplasia (CAH): Although less likely, CAH can present with hyperandrogenism and menstrual irregularities. It's crucial to rule out CAH due to its potential for serious complications if left untreated.
- Androgen-Secreting Tumors: These are rare but can cause significant hyperandrogenism. The relatively mild symptoms and lack of rapid progression make this less likely, but it should be considered to avoid missing a potentially curable cause of symptoms.
- Cushing's Syndrome: This condition, caused by excess cortisol, can lead to hyperandrogenism, menstrual irregularities, and insulin resistance. However, other typical features like significant weight gain, hypertension, and striae are not mentioned.
- Rare Diagnoses
- Hyperandrogenism due to other rare genetic disorders (e.g., Hyperandrogenism-Insulin Resistance-Acanthosis Nigricans syndrome): These conditions are less common and typically present with more severe symptoms or additional features not described in the patient's presentation.
- Acromegaly: Although acromegaly can cause insulin resistance and menstrual irregularities, it typically presents with more pronounced features like significant growth changes, which are not mentioned in the scenario.