Differential Diagnosis for 18-year-old Female with Skipped Menses, Acne, and Mild Hirsutism
- Single Most Likely Diagnosis
- Polycystic Ovary Syndrome (PCOS): This diagnosis is the most likely due to the patient's presentation of oligomenorrhea (skipped menses), acne vulgaris, mild hirsutism, and elevated total testosterone level. The normal BMI and absence of other significant laboratory abnormalities also support this diagnosis.
- Other Likely Diagnoses
- Functional Hypothalamic Amenorrhea: Although less likely given the patient's symptoms of hyperandrogenism, this condition could still be considered, especially if stress or significant weight changes are present.
- Idiopathic Hyperandrogenism: This diagnosis could be considered if the patient's symptoms and laboratory results do not fully meet the criteria for PCOS, but the presence of oligomenorrhea makes PCOS more likely.
- Do Not Miss Diagnoses
- Congenital Adrenal Hyperplasia (CAH): Although rare, CAH can present with hyperandrogenism and menstrual irregularities. It is crucial to rule out this condition due to its potential for significant morbidity if left untreated.
- Androgen-Secreting Tumors: Tumors of the ovaries or adrenal glands can cause hyperandrogenism and should be considered, especially if the patient's symptoms worsen or if there are significant abnormalities on physical examination.
- Cushing's Syndrome: This condition can cause hyperandrogenism, menstrual irregularities, and other symptoms. Although less likely given the patient's normal BMI and lack of other classic symptoms, it should not be missed due to its potential severity.
- Rare Diagnoses
- Hyperandrogenism due to other rare genetic disorders (e.g., 3-beta-hydroxysteroid dehydrogenase deficiency): These conditions are rare and typically present with more severe symptoms, but they should be considered if the patient's symptoms do not respond to treatment for PCOS or other more common conditions.
- Insulin Resistance Syndromes (e.g., type A insulin resistance, Rabson-Mendenhall syndrome): These rare conditions can cause hyperandrogenism and insulin resistance, but they are typically associated with more significant laboratory abnormalities and physical findings.