The Quest Diagnostics Manual: Endocrinology: Test Selection and Interpretation

Description

In this manual, Quest Diagnostics has consolidated detailed technical information for more than 150 of the endocrine and endocrine-related tests performed at Nichols Institute. Endocrinology Editorial Staff Copyright Forward Acknowledgements Contents Endocrine Test Categories Adrenocortical Function Cardiovascular/Lipids Catecholamines Congenital Adrenal Hyperplasia (CAH) Endocrine Autoimmunity Fluid, Electrolyte, and Renal Genetic (Biochemical and Cytogenetic) Gonadal Function Growth and Growth Hormone Hypothalamic and Pituitary Function Metabolic (Including Diabetes Mellitus) and Gastrointestinal Disorders Multiple Endocrine Neoplasia Parathyroid and Mineral Metabolism Thyroid Function Additional Diagnostic Profiles Dynamic/Perturbation Tests Alphabetical Test Section ACTH, Plasma Adrenal Antibody Aldosterone, 24-Hour Urine Aldosterone, LC/MS/MS, Serum Aldosterone/PRA Ratio Alkaline Phosphatase, Bone Specific Alpha Subunit 3α-Androstanediol Glucuronide (3α-diol G) Androstenedione, LC/MS/MS Angiotensin II Arginine Vasopressin, Plasma Arginine Vasopressin (AVP) and Osmolality Random Urine CAH (21-Hydroxylase Deficiency) Common Mutations CAH (21-Hydroxylase Deficiency) Rare Mutations CAH Panel 1 (21-Hydroxylase vs 11ß-Hydroxylase Deficiency) CAH Panel 3 (Aldosterone Synthase Deficiency) CAH Panels 4 and 8 (17-Hydroxylase Deficiency) CAH Panel 6 (StAR Deficiency) CAH Panel 6B (Comprehensive Screen) CAH Panel 7 (21-Hydroxylase Deficiency Therapeutic Monitoring) CAH Panel 9 (3ß-Hydroxysteroid Dehydrogenase Deficiency) CAH Panel 11, Neonatal Random Urine Calcitonin Calcium, Ionized Calcium, Total Calcium, Urine Catecholamines, Fractionated, 24-Hour Urine Catecholamines, Fractionated, Plasma Catecholamines, Fractionated, Random Urine Central Diabetes Insipidus (CDI) Mutations Chromogranin A Collagen Cross-Linked N-Telopeptide (NTx), Urine Collagen Type 1 C-Telopeptide (CTx) Corticosterone, LC/MS/MS Corticotropin Releasing Hormone (CRH) Cortisol-Binding Globulin (CBG) Cortisol, Free and Cortisone, 24-Hour Urine Cortisol, Free, 24-Hour Urine Cortisol, Free, Saliva Cortisol, Free, Serum Cortisol, Total, LC/MS/MS Cortisone, 24-Hour Urine Cortisone, Serum C-Peptide, Serum or Urine Cyclic Adenosine Monophosphate (Cyclic AMP) Cystatin C Deoxycorticosterone (DOC) 11-Deoxycortisol, LC/MS/MS Deoxypyridinoline (DPD, DPYD), Free Dexamethasone DHEA (Dehydroepianodrosterone) DHEA Sulfate Dihydrotestosterone (DHT) Dihydrotestosterone, Free Estradiol, Free Estradiol, Ultra Sensitive Estrogen, Total, Serum Estrogens, Fractionated, Serum Estrone, Serum Estrone Sulfate Fructosamine FSH (Follicle Stimulating Hormone) FSH (Follicle Stimulating Hormone), Pediatrics Gastric Parietal Cell Antibody Gastrin Glucagon Glucose, Serum Glutamic Acid Decarboxylase-65 Autoantibodies (GAD-65) Glycated Albumin Growth Hormone (GH) Growth Hormone (GH) Antibody Growth Hormone-Binding Protein (GHBP) Growth Hormone Releasing Hormone (GHRH) hCG, Total with HAMA Treatment hCG, Total, Quantitative Hemoglobin A1c 5-HIAA (5-Hydroxyindoleacetic Acid), Urine Homovanillic Acid (HVA), Urine 17-Hydroxycorticosteroids, 24-Hour Urine 18-Hydroxycorticosterone 6ß-Hydroxycortisol, 24-Hour Urine 18-Hydroxycortisol, Free, 24-Hour Urine 21-Hydroxylase Antibody 17-Hydroxypregnenolone 17-Hydroxyprogesterone, LC/MS/MS Hydroxyproline, Free, Plasma Hydroxyproline, Free and Total, 24-Hour Urine Hydroxyproline, Free and Total, Random Urine Hypertension, Endocrine IA-2 Antibody IGF Binding Protein-1 (IGFBP-1) IGF Binding Protein-2 (IGFBP-2) IGF Binding Protein-3 (IGFBP-3) IGF-I IGF-II (Insulin-Like Growth Factor II) Inhibin A Inhibin B Insulin Antibodies Insulin, Free (Bioactive) Insulin, Total (Free and Bound) Invasive Trophoblast Antigen (ITA) (Pregnancy) Islet Cell Antibody (ICA) 17-Ketosteroids (17-KS), Urine 17-Ketosteroids, Fractionated, 24-Hour Urine 17-Ketosteroids, Fractionated, 24-Hour Urine (continued) Leptin LH (Luteinizing Hormone) LH (Luteinizing Hormone), Pediatrics Macroprolactin MEN 2 and FMTC Mutations, Exons 10, 11, and 13-16 Metanephrines, Fractionated, Plasma Metanephrines, Fractionated, Urine Microalbumin, Intact, Urine Nephrogenic Diabetes Insipidus (Autosomal) Mutations Nephrogenic Diabetes Insipidus (X-Linked) Mutations Osmolality, Random Urine Osmolality, Serum Osteocalcin (Bone Gla Protein, BGP) Pancreatic Polypeptide Pheochromocytoma Gene Mutations Plasma Renin Activity (PRA) Pregnanetriol, Urine Pregnenolone Progesterone Proinsulin Prolactin PTH Antibody PTH, Intact and Calcium PTH-related Protein (PTH-RP) Pyridinium Collagen Cross-links, Urine (PYD and DPYD) Resistance to Thyroid Hormone Serotonin Sex Hormone Binding Globulin Somatostatin T3 Antibody T3 Uptake T3, Free, Non-dialysis T3, Free, Tracer Dialysis T3, Reverse T3, Total (Triiodothyronine) T4 (Thyroxine) Antibody T4 Binding Proteins T4 Binding Proteins (continued) T4, Free, Direct Dialysis T4, Free, Non-dialysis T4, Total (Thyroxine) Tartrate Resistant Acid Phosphatase TBG (Thyroxine-Binding Globulin) TBII (Thyrotropin-binding Inhibitory Immunoglobulin) Testosterone, Calculated Free, Bioavailable, and Total Testosterone, Calculated Free, Bioavailable, and Total (continued) Testosterone, Free and Total, LC/MS/MS Testosterone, Total, ICMA Testosterone, Total (Women, Children, Hypogonadal Males) Testosterone, Urine Tetrahydroaldosterone, 24-Hour Urine Thyroglobulin Antibody Thyroglobulin Panel Thyroglobulin Panel with HAMA Treatment Thyroid Peroxidase and Thyroglobulin Antibodies Thyroid Peroxidase Antibody (Anti-TPO) Thyrotropin-releasing Hormone (TRH) TSH Antibody TSH, Ultrasensitive TSH with HAMA Treatment TSI (Thyroid Stimulating Immunoglobulin) Vasoactive Intestinal Polypeptide (VIP) Vitamin D, 1,25-Dihydroxy Vitamin D, 25-Hydroxy, LC/MS/MS VMA (Vanillylmandelic Acid), Urine Test Application and Interpretation Preface Disorders of Adrenal Function Background Physiology Adrenal Insufficiency Adrenal Biosynthetic Enzyme Deficiencies Classical Congenital Adrenal Hyperplasia (CAH) Nonclassical Disease (Partial Deficiency to Steroid Biosynthesis) Cushing's Syndrome Renin-Angiotensin--Aldosterone System Background Physiology Assessment of Disorders of the RAAS Primary Aldosteronism Renovascular Hypertension Dexamethasone- suppressible Hyper-aldosteronism Pseudo-hyperaldosteronism Adrenal Diagnosis via Urine GC/MS Metabolite Analysis References Disorders of Anterior Pituitary Function Background Physiology Hypopituitarism Pituitary Adenomas General Features Prolactinoma Acromegaly Cushing's Disease Thyrotropinoma Gonadotropinoma References Disorders of Calcium and Bone Metabolism Background Physiology Laboratory Assessment of Disorders of Calcium Metabolism Evaluation of Hypercalcemia Evaluation of Hypocalcemia Vitamin D Deficiency Vitamin D Metabolism in Renal Failure Metabolic Bone Disease Clinical Application of Bone Markers Diagnosis of Bone Disorders Diagnosis of Osteoporosis Efficacy of Therapy Follow-up to Therapy References Disorders of Carbohydrate Metabolism Background Physiology Hyperglycemic Disorders Type 1 Diabetes Maturity Onset Diabetes of the Young (MODY) Type 2 Diabetes Diagnosis of Diabetes Mellitus Preventing and Managing Complications Hypoglycemic Disorders Diagnostic Approach References Disorders of Gonadal Function Background Physiology Development of the Hypothalamic--Pituitary Axis and Isolated Gonadotropin Releasing Hormone (GnRH) Deficiency Regulation of Pubertal Onset Regulation of the Mature Hypothalamic--Pituitary-- Gonadal Axis Gonadal Determination and Differentiation Measurement of Pituitary--Gonadal Axis Hormones Luteinizing Hormone (LH, Lutropin) Follicle Stimulating Hormone (FSH, Follitropin) Estrogens Testosterone Sex Hormone Binding Globulin Inhibin Abnormalities of Sexual Determination and Differentiation Disorders of Sexual Maturation Normal Puberty Staging Timing of Physical Changes of Puberty Normal Variants of Puberty Precocious Puberty Delayed or Absent Puberty Disorders of Testicular Function Developmental Disorders Disorders of the Germinal Cells Testicular Aging Disorders of Ovarian Function Premature Ovarian Failure (POF) Polycystic Ovarian Syndrome (PCOS) Assessment of Functional Gonadal Tumors References Disorders of the Growth Hormone--Insulin-Like Growth Factor Axis Background Physiology Growth Hormone Deficiency in Children Growth Hormone Deficiency in Adults Growth Hormone Excess Laboratory Assessment of the Growth Hormone--IGF Axis Insulin-Like Growth Factors and Binding Proteins Growth Hormone Dynamic Testing References Disorders of Thyroid Function Background Physiology Differential Diagnosis of Thyroid Disorders Primary Hypothyroidism Hyperthyroidism Hypothalamic-Pituitary Hypothyroidism Innappropriate TSH Secretion Nonthyroidal Illness Autoimmune Thyroid Disease Thyroid Dysfunction in Infancy and Early Childhood Thyroid Neoplasia Thyroid Protein Binding Abnormalities References Fluid and Electrolyte Disorders Background Physiology Primary Disorders Secondary Disorders Disorders of Potassium References Pheochromocytoma, Medullary Thyroid Carcinoma, and Multiple Endocrine Neoplasia Pheochromocytoma Diagnosis of Pheochromocytoma Genetic Testing for Pheochromocytoma Medullary Thyroid Carcinoma (MTC) Hereditary MTC Diagnosis and Management Sporadic MTC Diagnosis and Management MEN Type 1 References Dynamic Tests Adrenal Dynamic Tests ACTH Stimulation Test, Standard ACTH Stimulation Test, Prolonged ACTH Stimulation Test, Low Dose Aldosterone Suppression Test CRH Stimulation Test CRH Stimulation Test, Adrenal Venous Sampling CRH Stimulation Test, Petrosal Venous Sinus Sampling Dexamethasone Suppression Tests Carbohydrate Metabolic Dynamic Tests Glucose Tolerance Test Pancreatic Hormone Response Test Prolonged Fasting Test Gonadal Dynamic Test GnRH Stimulation Test Intravenous GnRH Subcutaneous GnRH Growth Hormone Dynamic Tests Glucose Suppression Test Growth Hormone Stimulation Test Multiple Endocrine Neoplasia Dynamic Test Secretin Stimulation Test Posterior Pituitary Dynamic Tests Combined Anterior Pituitary (CAP) Test Water Deprivation Test Thyroid Dynamic Tests Calcitonin-Calcium Stimulation Test Thyrotropin Releasing Hormone (TRH) Stimulation Test References International System of Units (SI Units) Test Index Subject Index