What laboratory tests should be ordered for routine evaluation of a premenopausal woman?

Laboratory Assessment for Premenopausal Women

For routine evaluation of premenopausal women, laboratory testing should be targeted based on specific clinical indications rather than universal screening, with iron studies (hemoglobin, ferritin, red cell indices) and coeliac serology being the most important routine assessments in this population. 1

Iron Deficiency Screening

All premenopausal women with any level of anemia should undergo iron deficiency evaluation, as iron deficiency anemia (IDA) is common in this population due to menstrual blood loss, pregnancy demands, and dietary factors. 1

Essential Iron Studies

• Hemoglobin (Hb): Use laboratory-specific lower limit of normal to define anemia 1
• Red cell indices: Provide sensitive indication of iron deficiency (microcytosis, hypochromia) in the absence of chronic disease or hemoglobinopathy 1
• Serum ferritin: The most powerful test for iron deficiency 1
• Hemoglobin electrophoresis: Recommended when microcytosis and hypochromia are present in patients of appropriate ethnic background to prevent unnecessary GI investigation 1

Coeliac Disease Screening

• Tissue transglutaminase antibody (tTG Ab): All premenopausal women with IDA should be screened for coeliac disease, as it is present in up to 4% of this population 1

When to Pursue Further Investigation

Upper GI endoscopy should be considered for premenopausal women with IDA who:

• Are aged ≥50 years 1
• Have upper GI symptoms according to Department of Health referral guidelines for suspected upper GI cancer 1
• Have persistent IDA after iron supplementation and correction of menstrual losses 1

Colonic investigation should be reserved for those with:

• Colonic symptoms 1
• Strong family history (two affected first-degree relatives or one first-degree relative affected before age 50) 1
• Persistent IDA despite treatment 1

Important caveat: Premenopausal women without menstruation (e.g., after hysterectomy) should be fully investigated as postmenopausal women, since menstruation—not menopausal status—influences the investigative pathway. 1

Reproductive Health Assessment

Hormone Testing (When Clinically Indicated)

For women with menstrual irregularities, amenorrhea, or suspected ovarian dysfunction, the core hormone panel should include: 2

• FSH and LH: Part of core evaluation for ovarian function 2
• Estradiol: Useful for determining ovarian function, particularly with serial measurements in women with irregular bleeding 2
• Prolactin: Included to rule out other causes of amenorrhea 2

Thyroid Assessment

• TSH and thyroid peroxidase antibodies (TPO-Ab): Should be checked if thyroid dysfunction is suspected, as thyroid disorders can mimic reproductive symptoms and are common in women of reproductive age 2

Critical point: Hormone testing should be interpreted alongside clinical symptoms, as laboratory tests alone are insufficient for diagnosis. 2

Cancer Risk Assessment

Genetic/Familial High-Risk Screening

For women with strong family history of breast or ovarian cancer, consider: 1

• Genetic counseling and testing for BRCA1, BRCA2, and other hereditary cancer syndromes 1
• Clinical breast examination every 6-12 months starting at age 25 or 5-10 years before earliest known breast cancer in family 1

Ovarian Mass Evaluation

For premenopausal women with pelvic mass, referral criteria include: 1

• CA-125 level >200 units/mL (though some experts suggest >50 units/mL as better discriminator) 1
• Metastatic disease or ascites 1
• Strong family history of breast or ovarian cancer 1

The OVA1 test is not recommended for determining status of undiagnosed pelvic mass due to increased cost without significant benefit and concerns about false-positive results. 1

Endometrial Cancer Awareness

At menopause, women should be informed about endometrial cancer risks and strongly encouraged to report any unexpected bleeding or spotting. 1, 2 This counseling should begin during the premenopausal years to establish awareness.

Metabolic Screening (Selective, Not Routine)

Metabolic screening is not routinely indicated in healthy premenopausal women but should be considered when: 2

• Fasting glucose or 2-hour oral glucose tolerance test: If insulin resistance is suspected 2
• Lipid profile: Not routinely indicated in premenopausal women unless cardiovascular risk factors present

Important distinction: While metabolic changes accelerate during menopausal transition 3, 4, 5, routine metabolic screening is not indicated for asymptomatic premenopausal women without risk factors.

Common Pitfalls to Avoid

• Do not perform faecal occult blood testing for investigation of IDA—it provides no benefit 1
• Do not rely on single stool sample collected on clinician's fingertip during digital rectal examination for occult blood testing 1
• Do not perform extensive GI investigation in young premenopausal women with IDA and obvious menstrual blood loss unless symptoms suggest GI pathology or anemia persists despite iron replacement 1
• Do not order hormone panels for routine screening in asymptomatic women with regular menses—these tests should be symptom-driven 2