Laboratory Diagnosis of Endocrine Diseases

Laboratory Diagnosis of Endocrine Diseases

Laboratory Diagnosis of Endocrine Diseases

On this page

Intro to Endocrine Testing - Hormonal Hullabaloo

  • Assays: RIA, ELISA, Chemiluminescence (CLIA).
  • Specimens: Critical timing (circadian/pulsatile rhythms), stability, specific anticoagulants (e.g., EDTA for PTH).
  • Pre-analytical factors: Stress, posture (e.g., renin), medications can alter hormone levels.
  • Secretion patterns: Pulsatile (e.g., LH, GH), Circadian (e.g., cortisol, ACTH), Feedback loops (mostly negative). HPA Axis Negative Feedback Loop
  • Testing types:
    • Static: Basal hormone levels (e.g., TSH, HbA1c).
    • Dynamic: Stimulation (e.g., ACTH for adrenal reserve) or Suppression (e.g., Dexamethasone for Cushing's).

⭐ Hook effect in immunoassays: Very high antigen levels (e.g., prolactin in prolactinoma) can cause falsely low readings. Overcome by sample dilution.

Hypothalamic-Pituitary Tests - Master Gland Metrics

Hypothalamic-Pituitary Axes and Target Organs

  • Growth Hormone (GH):
    • Screen: IGF-1 (more stable).
    • Acromegaly/Gigantism: Oral Glucose Tolerance Test (OGTT) - GH fails to suppress <1 ng/mL.
    • Deficiency: Insulin Tolerance Test (ITT) is gold standard; GH stimulation tests (e.g., Arginine, Clonidine).
  • Prolactin (PRL):
    • Basal PRL: >200 ng/mL highly suggestive of prolactinoma.
    • Dynamic tests (e.g., TRH stimulation) less common; screen for macroprolactin if indicated.
  • ACTH (Cushing's Syndrome Workup):
    • Basal: Morning ACTH & Cortisol.
    • Low-Dose Dexamethasone Suppression Test (LDDST - 1mg overnight): Failure to suppress cortisol suggests Cushing's Syndrome.
    • High-Dose Dexamethasone Suppression Test (HDDST - 8mg overnight): Cortisol suppression → Cushing's Disease (pituitary); No suppression → Ectopic ACTH / Adrenal tumor.
    • CRH Stimulation Test: Exaggerated ACTH/cortisol response in Cushing's Disease.
  • TSH: Assessed with free T4 (FT4) & T3 as part of thyroid function tests.
  • ADH (Vasopressin) - Diabetes Insipidus (DI):
    • Water Deprivation Test: Differentiates Central DI (Urine Osm ↑ >50% post-DDAVP) from Nephrogenic DI (minimal/no Urine Osm ↑ post-DDAVP).

⭐ Paradoxical GH rise with TRH or GnRH stimulation occurs in approximately 50% of patients with acromegaly.

Thyroid & Parathyroid Tests - Neck Check Diagnostics

  • Thyroid Function Tests (TFTs):
    • TSH: 0.4-4.0 mIU/L. Best initial. ↑Primary Hypo, ↓Primary Hyper.
    • fT4: 0.8-1.8 ng/dL; fT3: 2.3-4.2 pg/mL (more potent).
    • Antibodies: TPOAb/TgAb (Hashimoto’s), TRAb (Graves’).
    • Subclinical Hypo: ↑TSH, Normal fT4. Subclinical Hyper: ↓TSH, Normal fT4/fT3.
    • Non-Thyroidal Illness (NTI): ↓T3, ↓/Normal T4, Normal/↓ TSH.
  • Parathyroid Tests:
    • PTH, Serum Ca (Total: 8.5-10.5 mg/dL; Ionized: 4.65-5.25 mg/dL), Phosphate (2.5-4.5 mg/dL), Vit D (25-OH, 1,25-(OH)2).
    • Corrected Ca: $Ca_{corr} (mg/dL) = Ca_{total} (mg/dL) + 0.8 \times (4.0 - Albumin [g/dL])$.
    • Primary Hyperparathyroidism: ↑PTH, ↑Ca, ↓PO4.
    • Hypoparathyroidism: ↓PTH, ↓Ca, ↑PO4.

⭐ TSH is the single most sensitive test for primary thyroid dysfunction.

Thyroid Function Test Interpretation Table

Adrenal & Pancreatic Tests - Stress & Sugar Sleuthing

Adrenal gland zones and hormone products

  • Adrenal Tests:
    • Cortisol: Serum, 24hr urine free cortisol (UFC), late-night salivary.
    • ACTH: Basal, stimulated.
    • Dexamethasone Suppression Test (DST):
      • Low Dose (LDDST): 1mg overnight; failure to suppress cortisol → Cushing's syndrome.
      • High Dose (HDDST): 8mg; differentiates pituitary vs. ectopic ACTH.
    • CRH Stimulation: Differentiates Cushing's disease from ectopic ACTH.
    • Aldosterone & Renin: For hyperaldosteronism (ARR).
    • Metanephrines (plasma/urine), VMA (urine): For pheochromocytoma.
    • 📌 Mnemonic (Adrenal Cortex): GFR - Salt (Glomerulosa-Aldosterone), Sugar (Fasciculata-Cortisol), Sex (Reticularis-Androgens).
  • Pancreatic Endocrine Tests:
    • Glucose: Fasting (FPG), Post-prandial (PPG), Random.
      • Diabetes: FPG ≥ 126 mg/dL; PPG (OGTT) ≥ 200 mg/dL.
    • HbA1c: Glycated hemoglobin.
      • Diabetes: ≥ 6.5%.
    • Oral Glucose Tolerance Test (OGTT): 75g glucose load.
    • Insulin, C-peptide: Assess insulin secretion/resistance.

⭐ HbA1c reflects glycemic control over the preceding 2-3 months.

High‑Yield Points - ⚡ Biggest Takeaways

  • Basal hormone levels screen; dynamic tests (stimulation/suppression) confirm dysfunction (e.g., Cushing's, Addison's).
  • Immunoassays (ELISA, RIA) are pivotal for quantifying most hormone concentrations.
  • Urinary Free Cortisol (UFC) and metanephrines/VMA are crucial for Cushing's syndrome and pheochromocytoma.
  • Autoantibodies (anti-TPO, anti-TSHR, anti-GAD) diagnose autoimmune thyroiditis and Type 1 DM.
  • HbA1c reflects long-term glycemic control (2-3 months) in diabetes.
  • FNAC is the primary diagnostic tool for thyroid nodules.

Practice Questions: Laboratory Diagnosis of Endocrine Diseases

Test your understanding with these related questions

TRH stimulation testing is useful in diagnosis of disorders of the following hormones?

1 of 5

Flashcards: Laboratory Diagnosis of Endocrine Diseases

1/10

Which fixative is used for adrenal biopsy?_____

TAP TO REVEAL ANSWER

Which fixative is used for adrenal biopsy?_____

Orth's fluid

browseSpaceflip

Enjoying this lesson?

Get full access to all lessons, practice questions, and more.

Start Your Free Trial