Result Interpretation

Interpreting endocrine test results requires careful consideration of various factors, including the patient’s clinical presentation, reference intervals, and potential interfering substances

General Principles of Test Result Interpretation

  • Reference Intervals
    • Use appropriate reference intervals for the specific assay and patient population
    • Reference intervals can vary based on age, sex, ethnicity, and geographic location
  • Clinical Context
    • Interpret test results in the context of the patient’s clinical history, physical examination findings, and other laboratory data
    • Consider the patient’s symptoms, medications, and any coexisting medical conditions
  • Multiple Tests
    • Often, a single hormone measurement is insufficient for diagnosis; multiple tests or dynamic tests may be necessary
    • Assess the pattern of hormone levels rather than relying on a single value
  • Interfering Substances
    • Be aware of potential interfering substances that can affect hormone measurements (e.g., heterophile antibodies, biotin, medications)
    • Consider repeating the test using a different method if interference is suspected
  • Assay Limitations
    • Understand the limitations of the specific assay used, including its sensitivity, specificity, and potential for cross-reactivity
    • Consult with the laboratory or manufacturer for guidance on test interpretation

Pituitary Hormone Interpretation

Growth Hormone (GH)

  • Normal
    • Basal GH: < 5 ng/mL (may vary by assay)
    • Suppression after glucose load: < 1 ng/mL
  • Elevated GH
    • Acromegaly (adults): Enlargement of hands, feet, and facial features; joint pain; excessive sweating; glucose intolerance
    • Gigantism (children): Excessive growth and height
    • Pituitary adenoma: Confirmed by imaging studies (MRI)
  • Suppressed GH
    • Growth hormone deficiency (GHD): Short stature in children, fatigue, decreased muscle mass, and increased body fat in adults
    • Hypopituitarism: May be associated with deficiencies of other pituitary hormones
    • Evaluate with stimulation testing (e.g., insulin tolerance test)

Adrenocorticotropic Hormone (ACTH)

  • Normal
    • Morning ACTH: 10-50 pg/mL (may vary by assay)
  • Elevated ACTH
    • Cushing’s disease: Pituitary adenoma causing excessive ACTH production
    • Ectopic ACTH syndrome: ACTH-secreting tumor outside the pituitary (e.g., small cell lung cancer)
    • Primary adrenal insufficiency: Lack of negative feedback from cortisol
  • Suppressed ACTH
    • Secondary adrenal insufficiency: Pituitary or hypothalamic dysfunction
    • Exogenous glucocorticoid use: Suppression of the hypothalamic-pituitary-adrenal (HPA) axis
    • Differentiate causes with stimulation and suppression testing (e.g., dexamethasone suppression test)

Thyroid-Stimulating Hormone (TSH)

  • Normal
    • TSH: 0.4-4.0 μIU/mL (may vary by assay)
  • Elevated TSH
    • Primary hypothyroidism: Thyroid gland failure
    • Hashimoto’s thyroiditis: Autoimmune destruction of the thyroid gland
    • Symptoms: Fatigue, weight gain, cold intolerance, constipation
  • Suppressed TSH
    • Hyperthyroidism: Excessive thyroid hormone production
    • Graves’ disease: Autoimmune stimulation of the thyroid gland
    • Toxic nodular goiter: Overactive thyroid nodules
    • Symptoms: Weight loss, anxiety, heat intolerance, palpitations
    • Central hypothyroidism: Pituitary or hypothalamic dysfunction
    • Evaluate with free T4 and T3 measurements

Prolactin

  • Normal
    • Prolactin: < 20 ng/mL (may vary by assay)
  • Elevated Prolactin (Hyperprolactinemia)
    • Prolactinoma: Pituitary tumor secreting prolactin
    • Medications: Antipsychotics, antidepressants, and other drugs
    • Pregnancy: Physiological increase in prolactin
    • Hypothyroidism: Elevated TSH can stimulate prolactin secretion
    • Symptoms: Galactorrhea (milk production), amenorrhea (absence of menstruation), infertility, and sexual dysfunction
  • Suppressed Prolactin
    • Hypopituitarism: May be associated with deficiencies of other pituitary hormones
    • Rarely clinically significant

Luteinizing Hormone (LH) and Follicle-Stimulating Hormone (FSH)

  • Normal
    • Varies depending on sex and menstrual cycle phase in women
  • Elevated LH and FSH
    • Primary hypogonadism: Gonadal failure (e.g., Klinefelter syndrome in men, Turner syndrome in women)
    • Polycystic ovary syndrome (PCOS): Elevated LH/FSH ratio
  • Suppressed LH and FSH
    • Secondary hypogonadism: Pituitary or hypothalamic dysfunction
    • Anabolic steroid use: Suppression of the hypothalamic-pituitary-gonadal (HPG) axis
    • Symptoms: Infertility, sexual dysfunction, and decreased secondary sexual characteristics

Thyroid Hormone Interpretation

Free Thyroxine (Free T4)

  • Normal
    • Free T4: 0.8-1.8 ng/dL (may vary by assay)
  • Elevated Free T4
    • Hyperthyroidism: Excessive thyroid hormone production
    • Graves’ disease: Autoimmune stimulation of the thyroid gland
    • Toxic nodular goiter: Overactive thyroid nodules
  • Suppressed Free T4
    • Hypothyroidism: Thyroid gland failure
    • Hashimoto’s thyroiditis: Autoimmune destruction of the thyroid gland
    • Central hypothyroidism: Pituitary or hypothalamic dysfunction
    • Evaluate in conjunction with TSH

Free Triiodothyronine (Free T3)

  • Normal
    • Free T3: 2.3-4.2 pg/mL (may vary by assay)
  • Elevated Free T3
    • Hyperthyroidism: Excessive thyroid hormone production
    • T3 toxicosis: Selective elevation of T3
  • Suppressed Free T3
    • Hypothyroidism: Thyroid gland failure
    • Non-thyroidal illness: Decreased conversion of T4 to T3
    • Evaluate in conjunction with TSH and free T4

Thyroid Antibodies

  • Thyroid Peroxidase Antibody (TPO Ab)
    • Elevated in Hashimoto’s thyroiditis and Graves’ disease
  • Thyroglobulin Antibody (Tg Ab)
    • Elevated in Hashimoto’s thyroiditis and Graves’ disease
  • TSH Receptor Antibody (TRAb)
    • Elevated in Graves’ disease
    • Confirms the diagnosis of autoimmune thyroid disease

Adrenal Hormone Interpretation

Cortisol

  • Normal
    • Morning cortisol: 5-25 μg/dL (may vary by assay)
    • Evening cortisol: < 5 μg/dL
  • Elevated Cortisol
    • Cushing’s syndrome: Excessive cortisol production
    • Cushing’s disease: Pituitary adenoma causing excessive ACTH production
    • Ectopic ACTH syndrome: ACTH-secreting tumor outside the pituitary
    • Adrenal tumor: Cortisol-secreting tumor in the adrenal gland
    • Exogenous glucocorticoid use: Iatrogenic Cushing’s syndrome
    • Evaluate with dexamethasone suppression test and ACTH measurement
  • Suppressed Cortisol
    • Adrenal insufficiency: Insufficient cortisol production
    • Primary adrenal insufficiency: Addison’s disease (adrenal gland failure)
    • Secondary adrenal insufficiency: Pituitary or hypothalamic dysfunction
    • Evaluate with ACTH stimulation test

Aldosterone

  • Normal
    • Varies depending on sodium intake and posture
  • Elevated Aldosterone
    • Primary hyperaldosteronism: Aldosterone-secreting tumor in the adrenal gland (Conn’s syndrome)
    • Secondary hyperaldosteronism: Increased renin production due to kidney disease or heart failure
    • Hypertension, hypokalemia, and metabolic alkalosis
  • Suppressed Aldosterone
    • Adrenal insufficiency: Adrenal gland failure
    • Congenital adrenal hyperplasia: Genetic defect in cortisol synthesis leading to increased androgens and decreased aldosterone
    • Evaluate in conjunction with renin measurement

Catecholamines (Epinephrine, Norepinephrine, Dopamine)

  • Elevated Catecholamines
    • Pheochromocytoma: Tumor of the adrenal medulla that produces excessive catecholamines
    • Symptoms: Hypertension, palpitations, sweating, and headaches
    • Evaluate with urine metanephrines and catecholamines

Parathyroid Hormone (PTH) Interpretation

  • Normal
    • PTH: 10-65 pg/mL (may vary by assay)
  • Elevated PTH
    • Primary hyperparathyroidism: Parathyroid adenoma or hyperplasia causing excessive PTH production and hypercalcemia
    • Secondary hyperparathyroidism: Increased PTH production due to chronic kidney disease or vitamin D deficiency
  • Suppressed PTH
    • Hypoparathyroidism: Insufficient PTH production leading to hypocalcemia
    • Surgical removal or autoimmune destruction of the parathyroid glands
    • Evaluate in conjunction with calcium and vitamin D measurements

Gonadal Hormone Interpretation

Testosterone

  • Normal
    • Varies depending on age and sex
    • Adult males: 300-1000 ng/dL
    • Adult females: 15-70 ng/dL
  • Elevated Testosterone
    • Polycystic ovary syndrome (PCOS) in women: Hirsutism, acne, and menstrual irregularities
    • Testicular tumor in men: Rare
    • Congenital adrenal hyperplasia (CAH): Genetic defect in cortisol synthesis
  • Suppressed Testosterone
    • Hypogonadism in men: Sexual dysfunction, decreased muscle mass, and fatigue
    • Klinefelter syndrome: Genetic disorder in males (XXY)
    • Pituitary or hypothalamic dysfunction: Secondary hypogonadism
    • Anabolic steroid use: Suppression of endogenous testosterone production

Estradiol (E2)

  • Normal
    • Varies depending on sex and menstrual cycle phase in women
    • Adult females: 30-400 pg/mL (varies with cycle)
    • Adult males: 10-40 pg/mL
  • Elevated Estradiol
    • Ovarian tumor in women: Rare
    • Gynecomastia in men: Enlargement of breast tissue
    • Precocious puberty: Early onset of puberty in children
  • Suppressed Estradiol
    • Hypogonadism in women: Menopause or Turner syndrome
    • Pituitary or hypothalamic dysfunction: Secondary hypogonadism
    • Symptoms: Amenorrhea, infertility, and osteoporosis

Progesterone

  • Normal
    • Varies depending on menstrual cycle phase and pregnancy
  • Elevated Progesterone
    • Pregnancy: Physiological increase
    • Ovarian cyst or tumor: Rare
  • Suppressed Progesterone
    • Anovulation: Failure to ovulate
    • Luteal phase defect: Inadequate progesterone production after ovulation

Other Hormones

Insulin

  • Normal
    • Fasting insulin: 3-17 μIU/mL (may vary by assay)
  • Elevated Insulin
    • Insulin resistance: Elevated insulin levels required to maintain normal glucose levels
    • Insulinoma: Insulin-secreting tumor in the pancreas
    • Type 2 diabetes: Early stages
  • Suppressed Insulin
    • Type 1 diabetes: Autoimmune destruction of pancreatic beta cells
    • Pancreatic damage or removal

C-Peptide

  • Normal
    • C-peptide: 0.5-2.0 ng/mL (may vary by assay)
  • Elevated C-Peptide
    • Insulinoma: Insulin-secreting tumor in the pancreas
    • Insulin resistance: Elevated insulin production
    • Type 2 diabetes: Early stages
  • Suppressed C-Peptide
    • Type 1 diabetes: Autoimmune destruction of pancreatic beta cells
    • Exogenous insulin administration: Suppression of endogenous insulin production
    • Factitious hypoglycemia: Intentional insulin administration

Human Chorionic Gonadotropin (hCG)

  • Normal
    • Non-pregnant: < 5 mIU/mL
    • Pregnancy: Rapidly increases in early pregnancy
  • Elevated hCG
    • Pregnancy: Confirms pregnancy
    • Ectopic pregnancy: Elevated hCG, but lower than expected for gestational age
    • Gestational trophoblastic disease (e.g., hydatidiform mole): Markedly elevated hCG levels
    • Tumor marker for certain cancers (e.g., testicular cancer)
  • Suppressed hCG
    • Non-pregnant: Normal
    • Miscarriage: Decreasing hCG levels

Key Terms

  • Reference Interval: The range of values found in healthy individuals
  • Clinical Context: The patient’s clinical history, physical examination findings, and other laboratory data
  • Interfering Substance: A substance that affects the accuracy of a test
  • Assay Limitation: The limitations of the specific assay used, including its sensitivity, specificity, and potential for cross-reactivity
  • Hormone Excess: Abnormally high hormone levels
  • Hormone Deficiency: Abnormally low hormone levels
  • Primary Endocrine Disorder: A disorder originating in the endocrine gland itself
  • Secondary Endocrine Disorder: A disorder resulting from dysfunction of the pituitary or hypothalamus
  • Tertiary Endocrine Disorder: A disorder resulting from dysfunction of the hypothalamus
  • Stimulation Test: A test used to assess hormone deficiency by stimulating hormone release
  • Suppression Test: A test used to assess hormone excess by suppressing hormone production