What is the workup for a patient with secondary amenorrhea and elevated testosterone levels?

Workup for Secondary Amenorrhea with Elevated Testosterone

The initial workup for secondary amenorrhea with elevated testosterone should include measurement of serum luteinizing hormone (LH), follicle-stimulating hormone (FSH), prolactin, and thyroid-stimulating hormone (TSH) levels, along with a pregnancy test. 1, 2

Initial Evaluation

• Confirm secondary amenorrhea: absence of menses for 6 months in previously menstruating women 1, 2

• Obtain detailed history focusing on:

  • Menstrual patterns before cessation 2
  • Exercise habits and nutritional status 1
  • Medication use including hormonal therapies 2
  • Symptoms of hyperandrogenism (hirsutism, acne, male-pattern baldness) 1

• Physical examination should assess:

  • BMI and body fat distribution 1
  • Signs of hyperandrogenism 2
  • Presence of galactorrhea 1

Laboratory Testing

First-line Testing:

• Pregnancy test (to exclude pregnancy) 1, 2
• Serum testosterone (total and free) and DHEAS to confirm and characterize hyperandrogenism 1
• LH and FSH levels to determine ovarian function 3, 1
• Prolactin level to rule out hyperprolactinemia 3, 1
• TSH to assess thyroid function 1, 2

Interpretation of Initial Results:

• Elevated testosterone with normal/high LH:FSH ratio >2: Suggests polycystic ovary syndrome (PCOS) 1
• Elevated testosterone with low/normal LH and FSH: Consider hypothalamic dysfunction or hyperprolactinemia 3, 1
• Elevated testosterone with high FSH: Consider primary ovarian insufficiency with androgen-producing lesion 1, 2

Additional Testing Based on Initial Results

For suspected PCOS:

• Pelvic ultrasound to evaluate for polycystic ovarian morphology 1
• Metabolic screening (fasting glucose, lipid panel) 1, 2

For suspected hyperprolactinemia:

• If prolactin is elevated, repeat measurement to confirm 3
• Pituitary MRI if prolactin remains elevated 3

For suspected hypothalamic amenorrhea:

• Bone density testing 1
• Nutritional assessment 1

For markedly elevated testosterone (>150-200 ng/dL):

• Consider adrenal and ovarian imaging to rule out androgen-secreting tumors 4
• Adrenal CT scan and ovarian ultrasound or MRI 2

Special Considerations

• Patients with testosterone levels <150 ng/dL typically have functional causes like PCOS 3
• Patients with very high testosterone levels (>200 ng/dL) should be evaluated for androgen-secreting tumors 4
• Patients with low/normal LH and elevated testosterone should have prolactin measured to screen for hyperprolactinemia 3
• Persistently elevated prolactin warrants referral to endocrinology and pituitary imaging 3

Common Pitfalls to Avoid

• Failing to rule out pregnancy before extensive workup 1, 2
• Missing androgen-secreting tumors in patients with markedly elevated testosterone 4
• Confusing functional hypothalamic amenorrhea with PCOS when both polycystic ovaries and hypothalamic dysfunction are present (FHA-PCOM) 1
• Not considering medication effects on testosterone levels and menstrual function 2
• Overlooking the need for bone density assessment in patients with prolonged amenorrhea 1

Follow-up and Management

• Management depends on the underlying cause and the patient's reproductive goals 2
• PCOS patients require metabolic screening and interventions to reduce long-term health risks 1, 2
• Patients with functional hypothalamic amenorrhea need addressing of underlying triggers 1
• Patients with hyperprolactinemia may need dopamine agonist therapy 1
• Patients with androgen-secreting tumors typically require surgical intervention 4