Differential Diagnosis for a 16-year-old Female with Hirsutism, Irregular Menses, and Laboratory Abnormalities

Single Most Likely Diagnosis

• Polycystic Ovary Syndrome (PCOS): This diagnosis is the most likely due to the combination of hirsutism, irregular menses, elevated LH levels, and the presence of other metabolic abnormalities such as elevated lipids. PCOS is a common endocrine disorder in women of reproductive age and is often associated with insulin resistance, which can contribute to the metabolic findings.

Other Likely Diagnoses

• Hyperandrogenism due to other causes: Other conditions that could lead to hyperandrogenism, such as congenital adrenal hyperplasia, adrenal tumors, or Cushing's syndrome, though less likely, should be considered due to the presence of hirsutism.
• Thyroid dysfunction: Although the TSH is within the normal range, thyroid dysfunction can sometimes present with irregular menses and metabolic changes. It's essential to ensure that thyroid function is fully evaluated.
• Prolactinoma or other prolactin-related disorders: The prolactin level is at the upper limit of normal, which might suggest a prolactin-related issue, especially if there are symptoms like galactorrhea or headache. However, the level is not significantly elevated, making this less likely.

Do Not Miss Diagnoses

• Cushing's Syndrome: This rare endocrine disorder can cause hirsutism, irregular menses, and metabolic abnormalities. It's crucial to consider Cushing's syndrome due to its potential severity and the need for early intervention.
• Androgen-secreting tumors: Although rare, tumors of the ovaries or adrenal glands can produce excess androgens, leading to symptoms like hirsutism. Early detection is critical for effective management.
• Pituitary or hypothalamic disorders: Disorders affecting the pituitary or hypothalamus can lead to hormonal imbalances, including those presenting with the patient's symptoms. These conditions can be severe and require prompt diagnosis.

Rare Diagnoses

• Congenital adrenal hyperplasia (late-onset): This genetic disorder can lead to excess androgen production and might present with hirsutism and irregular menses in females.
• Insulin resistance syndromes (e.g., type A insulin resistance, Leprechaunism): These rare syndromes can cause insulin resistance, leading to hyperandrogenism and metabolic abnormalities.
• Other genetic disorders affecting hormone production or regulation: Various rare genetic conditions can affect hormone production or regulation, potentially leading to the patient's symptoms.