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دانلود کتاب Handbook of Diagnostic Endocrinology
دانلود کتاب راهنمای تشخیصی غدد درون ریز
مشخصات کتاب
Handbook of Diagnostic Endocrinology
ویرایش: [3 ed.] نویسندگان: William E. Winter, Brett Holmquist, Lori J. Sokoll, Roger L. Bertholf (ed.) سری: ISBN (شابک) : 9780128182772 ناشر: Elsevier, Academic Press سال نشر: 2021 تعداد صفحات: [726] زبان: English فرمت فایل : PDF (درصورت درخواست کاربر به PDF، EPUB یا AZW3 تبدیل می شود) حجم فایل: 11 Mb
قیمت کتاب (تومان) : 34,000
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توجه داشته باشید کتاب راهنمای تشخیصی غدد درون ریز نسخه زبان اصلی می باشد و کتاب ترجمه شده به فارسی نمی باشد. وبسایت اینترنشنال لایبرری ارائه دهنده کتاب های زبان اصلی می باشد و هیچ گونه کتاب ترجمه شده یا نوشته شده به فارسی را ارائه نمی دهد.
توضیحاتی در مورد کتاب راهنمای تشخیصی غدد درون ریز
آزمایشگاه بالینی نقش مهمی در تشخیص و مدیریت اختلالات غدد درون ریز و متابولیک مرتبط با آن، که از علل اصلی مرگ و میر در کودکان و بزرگسالان هستند، ایفا می کند. کتاب راهنمای غدد درون ریز تشخیصی، ویرایش سوم، یک مرجع آماده برای ارزیابی، تشخیص و نظارت بر چنین اختلالاتی ارائه می دهد. این تجدید نظر شامل پزشکی ترجمه‌ای می‌شود، و آنچه را که پزشکان باید بدانند با کسانی که در تحقیق هستند، مرتبط می‌کند و زمینه بالینی را فراهم می‌کند که می‌توانند یافته‌های مولکولی خود را به آن مرتبط کنند. این کتاب با گردآوری یک کتاب غدد درون ریز در سطوح مولکولی و بالینی نیازهای پزشکان و محققان را برطرف می کند. همانطور که پیچیدگی های سیگنال دهی درون سلولی بهتر درک شده است، حالات مقاومت هورمونی اکنون به طور فزاینده ای شناخته می شوند. شایع ترین غدد درون ریز در کشورهای غربی، سندرم متابولیک، تا حد زیادی ناشی از مقاومت به انسولین است. پیچیدگی اشکال در گردش هورمون های مختلف در این تجدید نظر تایید شده است. هر فصل بر روی آزمایش‌های بیوشیمیایی تمرکز دارد که در حالت پایه یا به دنبال تحریک یا سرکوب، برای کمک به تشخیص اختلالات مختلف مورد نیاز است. اطلاعات بالینی شامل کشف روش های جدید تشخیصی و درمانی است
توضیحاتی درمورد کتاب به خارجی
The clinical laboratory plays a critical role in the diagnosis and management of endocrine and related metabolic disorders, which are leading causes of morbidity and mortality in children and adults. The Handbook of Diagnostic Endocrinology, Third Edition, provides a ready reference for the evaluation, diagnosis, and monitoring of such disorders. This revision incorporates translational medicine, connecting what clinicians need to know with those in research providing a clinical context to which they can relate their molecular findings. This book solves the needs of clinicians and researchers by bringing together in one book endocrinology at the molecular and clinical levels. As the intricacies of intracellular signaling have become better understood, states of hormone resistance are now increasingly recognized. The most common endocrinopathy in westernized countries, the metabolic syndrome, results, to a large extent, from insulin resistance. The complexity of the circulating forms of various hormones are acknowledged in this revision. Each chapter focuses on the biochemical tests that are required, either in the basal state or following provocation or suppression, to assist in the diagnosis of the various disorders Describes proper sample collection and relevant interpretations of laboratory tests Contains essential molecular biology and incorporates it with the clinical information Includes the discovery of new diagnostic and treatment methods
فهرست مطالب
Title-page_2021_Handbook-of-Diagnostic-Endocrinology Handbook of Diagnostic Endocrinology Copyright_2021_Handbook-of-Diagnostic-Endocrinology Copyright Dedications_2021_Handbook-of-Diagnostic-Endocrinology Dedications Contents_2021_Handbook-of-Diagnostic-Endocrinology Contents List-of-Contributors_2021_Handbook-of-Diagnostic-Endocrinology List of Contributors Preface-and-Acknowledgments_2021_Handbook-of-Diagnostic-Endocrinology Preface and Acknowledgments Acknowledgments Chapter-1---Maximizing-the-value-of-labora_2021_Handbook-of-Diagnostic-Endoc 1 Maximizing the value of laboratory tests Interferences associated with mass spectrometry Exogenous interference Hemolysis, lipemia, and icterus Matrix effects Blood collection tubes Tube wall Rubber stopper Anticoagulants Surfactants Clot activators Separator gel Label interferences Drugs and herbal medicine Timing of sample collection Storage/freeze-thaw Analytical errors Carryover Endogenous interference Excess antigen interference (hook effect) Antibody specificity (cross-reactivity) Antibody interference Heterophile antibodies Human antianimal antibodies Human antimouse antibodies Autoantibodies Rheumatoid factors Endogenous hormone-binding proteins Other plasma proteins Fibrinogen Complement proteins Lysozymes Paraproteins Albumin Detection and testing for interference in suspected samples Biotin Prevalence of elevated biotin Impact of biotin interference on diagnostic assays Detection of biotin interference Anti-ruthenium and anti-streptavidin antibody interference Serial monitoring and reference change value: Determining whether changes are significant Physiological variation (intra-individual variation) Analytic variation Calculating significant variation Example 1—Is the statin working? Example 2—Is the DPP-4 inhibitor working? Example 3—Sestamibi scan or surgical consult? Automated calculations Postanalytical errors Reference ranges, normal values, and desired results Sensitivity, specificity, and predictive value Receiver operating characteristic plot3 Likelihood ratio Summary of postanalytical errors Conclusion References Chapter-2---Laboratory-investigation-of-disorde_2021_Handbook-of-Diagnostic- 2 Laboratory investigation of disorders of the pituitary gland Anterior pituitary Hypothalamic regulators of anterior pituitary hormones Anterior pituitary hormone physiology and biochemistry Features of hypopituitarism Investigation of hypopituitarism Secretory pituitary tumors Prolactinomas Acromegaly Other secretory tumors Posterior pituitary Diabetes insipidus SIADH Conclusion References Suggested reading Chapter-3---Thyroid-disease-and-laboratory_2021_Handbook-of-Diagnostic-Endoc 3 Thyroid disease and laboratory assessment The thyroid gland Physiology of the thyroid–pituitary–hypothalamic axis Metabolism Signs and symptoms Screening for thyroid dysfunction Variables affecting testing of thyroid function The serum TSH/FT4 relationship Effects of chronological age on thyroid test reference ranges Pregnancy Pathological variables Medications Nonthyroidal illness Specimen variables Disease-specific variation Caloric deprivation Hepatic disorders Renal failure Acquired immunodeficiency syndrome and acquired immunodeficiency syndrome—related complex Psychiatric disorders Helpful clues to distinguish thyroid disease from nonthyroidal causes of abnormal hormone levels Thyroid disorders Hyperthyroidism Iatrogenic hyperthyroidism Transient hyperthyroidism High thyroid-stimulating hormone with hyperthyroidism Hypothyroidism Primary hypothyroidism Central hypothyroidism Hypothyroidism after radioactive iodine therapy Treated hypothyroidism Neonatal hypothyroidism Effects of binding protein aberrations on thyroid function tests Screening for subclinical thyroid disease Laboratory tests used in the assessment of thyroid function Thyroid-stimulating hormone (thyrotropin) Specificity Sensitivity Thyroid-stimulating hormone reference intervals Thyroid-stimulating hormone upper reference limits Thyroid-stimulating hormone lower reference limits Clinical use of serum thyroid-stimulating hormone measurements Screening for thyroid dysfunction in ambulatory patients Elderly patients L-T4 replacement therapy L-T4 suppression therapy Serum thyroid-stimulating hormone measurement in hospitalized patients with nonthyroidal illness Central hypothyroidism Inappropriate thyroid-stimulating hormone secretion syndromes Thyroid-stimulating hormone–secreting pituitary tumors Thyroid hormone resistance Thyrotropin-releasing hormone test FT4 Influence of methods of analysis on test results Interferences/considerations for interpretation of results Normal range T4 Normal range Resin uptake ratio Normal range Free thyroid index Normal range Interpretation T3 Normal range Free T3 Normal range Reverse T3 Tg Analytical methods Normal range Thyroid autoantibodies Analytical methods Utilization of laboratory tests in the diagnosis and monitoring of thyroid disease: recommendations for testing Interpretive hints when thyroid-stimulating hormone and FT4 results seem discrepant Further reading Chapter-4---Disorders-of-the-adrenal-gland-----This-chapter-_2021_Handbook-o 4 Disorders of the adrenal gland* Adrenocortical insufficiency Detecting cortisol deficiency Clinical symptoms and signs of adrenocortical insufficiency Causes of adrenocortical insufficiency Laboratory investigation of adrenocortical insufficiency Patients presenting with Addisonian crisis Patients with suspected glucocorticoid deficiency who do not present acutely ill Tests of adrenal function Adrenocorticotropic hormone stimulation tests The 1-h adrenocorticotropic hormone stimulation test 8-h, 2-day, and 3- to 5-day adrenocorticotropic hormone stimulation tests Corticotropin-releasing hormone stimulation test Insulin-induced hypoglycemia test Glucagon stimulation test Mineralocorticoid assessment Evaluation for specific causes of primary adrenocortical insufficiency Autoimmune Addison disease Congenital adrenal hyperplasia Adrenoleukodystrophy and adrenomyeloneuropathy Zellweger spectrum disorder Congenital adrenal hypoplasia Steroidogenic factor-1 Wolman disease Mitochondrial causes of Addison disease Smith–Lemli–Opitz syndrome Adrenocortical excess Clinical symptoms of glucocorticoid excess (Cushing syndrome) The differential diagnosis of glucocorticoid excess Cortisol resistance and ectopic adrenocorticotropic hormone Cushing syndrome The biochemical diagnosis of glucocorticoid excess Plasma and salivary cortisol Urinary free cortisol measurements Overnight dexamethasone suppression test Low-dose dexamethasone-corticotropin-releasing hormone test DDAVP stimulation test Adrenocorticotropic hormone measurements Bilateral inferior petrosal venous sinus sampling and corticotropin-releasing hormone stimulation testing Evaluation for adrenal tumors Mineralocorticoid excess Adrenal tumors Glucocorticoid-remediable aldosteronism Apparent mineralocorticoid excess Biochemical evaluation of primary aldosteronism Pheochromocytoma and paraganglioma Clinical overview Isolated and familial pheochromocytoma/paraganglioma Neurofibromatosis Type 1 Von Hippel–Lindau disease Laboratory diagnosis of the pheochromocytoma/paraganglioma Urine catecholamines and metanephrines Plasma catecholamines and metanephrines Clonidine suppression test Chromogranin A Neuroblastoma, ganglioneuroma, and ganglioneuroblastoma List of abbreviations References Chapter-5---Endocrine-disorders-of-the-repro_2021_Handbook-of-Diagnostic-End 5 Endocrine disorders of the reproductive system Hypothalamic-pituitary-gonadal axis Female reproductive disorders Prepubertal disorders Hirsutism Irregular menses Polycystic ovarian syndrome Infertility Ovulatory dysfunction Ovarian reserve Structural factors Treatments Male reproductive disorders Prepubertal disorders Hypogonadotropic hypogonadism Hypothalamic causes Hypergonadotropic hypogonadism Klinefelter syndrome Defects in androgen action Erectile dysfunction Gynecomastia Infertility Semen analysis Endocrine parameters Treatment References Chapter-6---Gastroenteropancreatic-neuroend_2021_Handbook-of-Diagnostic-Endo 6 Gastroenteropancreatic neuroendocrine tumors Biochemistry and physiology of the more common gastrointestinal hormones Gastrin Somatostatin Secretin Cholecystokinin Pancreatic polypeptide Pancreatic neuroendocrine tumors Glucagonoma Somatostatinoma VIPoma Gastrointestinal neuroendocrine tumors Carcinoid tumor Nonfunctioning neuroendocrine tumor (pancreatic neuroendocrine tumors) Conclusion References Chapter-7---Evaluation-of-hypoglycem_2021_Handbook-of-Diagnostic-Endocrinolo 7 Evaluation of hypoglycemia Introduction Clinical symptoms of hypoglycemia Fasting hypoglycemia versus reactive hypoglycemia Diagnosis of hypoglycemia Biochemical definition of hypoglycemia Causes of hypoglycemia Diagnostic workup for hypoglycemia Evaluation of acute hypoglycemia Prolonged fasts in the evaluation of hypoglycemia Testing strategy for evaluation of hypoglycemia Hypoglycemia syndromes with hyperinsulinism Hyperinsulinism with elevated C-peptide Neonatal hyperinsulinism Hyperinsulinism in children and adults Hyperinsulinism with suppressed C-peptide Hyperinsulinism: biochemical findings compatible with hyperinsulinism in the absence of measured hyperinsulinism Nonhyperinsulinemic hypoglycemia Drugs as causes of hypoglycemia Endocrinopathies as causes of hypoglycemia Carbohydrate and amino acid inborn errors of metabolism causing hypoglycemia Disorders of carbohydrate metabolism Galactosemia and hereditary fructose intolerance The glycogen storage diseases Defects in gluconeogenic enzymes Aminoacidopathies with associated hypoglycemia Liver and renal disorders as causes of hypoglycemia Limited substrate/increased utilization as causes of hypoglycemia Disorders of fatty acid oxidation Summary of the evaluation of hypoglycemia References Chapter-8---Evaluation-of-hyperglycem_2021_Handbook-of-Diagnostic-Endocrinol 8 Evaluation of hyperglycemia Hyperglycemia: acute versus chronic Clinical symptoms of diabetes Classification of diabetes Type 1 diabetes Type 2 diabetes Metabolic syndrome Metabolic syndrome consequences that result from hyperinsulinism Metabolic syndrome consequences that result from inadequate insulinization Other specific types of diabetes Genetic defects of β cell function Maturity-onset diabetes of youth Neonatal diabetes Mitochondrial diabetes Insulinopathies and hyperproinsulinopathies Other specific types of diabetes: considerations Genetic defects in insulin action Diseases of the exocrine pancreas Endocrinopathies causing diabetes Drug-induced diabetes Infection and diabetes Uncommon forms of immune-mediated diabetes Genetic syndromes and diabetes Gestational diabetes mellitus Diagnosis of diabetes Nonpregnant adults and children Choice of the blood specimen for measuring glucose Choice of tube type for phlebotomy The oral glucose tolerance test Measuring insulin or C-peptide Testing for gestational diabetes mellitus Screening strategies for diabetes mellitus Adults Children Biochemical monitoring in diabetes Self-monitoring of blood glucose and point-of-care testing Assessment of diabetic control Fructosamine Evaluation of lipid status Renal evaluation Ketone testing Other testing Conclusion References Chapter-9---Lipoproteins_2021_Handbook-of-Diagnostic-Endocrinology 9 Lipoproteins Background Classification of dyslipidemias Hypercholesterolemia Hypertriglyceridemia Combined hyperlipidemia Hypolipidemia Hypoalphalipoproteinemia Hypotriglyceridemia Laboratory assessment of dyslipidemia Conclusion References Chapter-10---Disorders-of-calcium-metab_2021_Handbook-of-Diagnostic-Endocrin 10 Disorders of calcium metabolism Introduction Calcium distribution in the body Circulating calcium Calcium measurements Phosphate measurements Clinical indications to measure calcium, phosphate, and related analytes Calcium and phosphate physiology Parathyroid glands and parathyroid hormone Calcium and the renal tubules Phosphate and the renal tubules Parathyroid hormone and bone Calcitonin and bone Procalcitonin—a marker of bacterial infection Vitamin D physiology 25-OHD and 1,25-OH2D metabolism Calcium and phosphate absorption from the gut Integrating parathyroid hormone and vitamin D actions Parathyroid hormone assays Clinical manifestations of disordered calcium or phosphate metabolism Hypocalcemia Decreased parathyroid hormone action Parathyroid hormone deficiency—acquired hypoparathyroidism Parathyroid hormone deficiency—genetic causes of hypoparathyroidism Parathyroid hormone resistance Parathyroid hormone receptor defects: parathyroid hormone receptor-1 mutations Postparathyroid hormone receptor-1 signaling Guanine nucleotide-binding protein (G protein), alpha guanine nucleotide-binding protein, α stimulating defects Defects distal to guanine nucleotide-binding protein, α stimulating Vitamin D disorders—reduced vitamin D activity Vitamin D-deficient rickets/osteomalacia Vitamin D–dependent rickets/osteomalacia Hepatic rickets Accelerated vitamin D metabolism Hyperphosphaturia causing hypophosphatemia Renal tubular disorders: primary and secondary conditions Renal phosphate wasting tumor-induced osteomalacia Hereditary forms of hypophosphatemic rickets/osteomalacia X-linked hypophosphatemic rickets Autosomal-dominant hypophosphatemic rickets Autosomal-recessive hypophosphatemic rickets Hereditary hypophosphatemic rickets with hypercalciuria Other causes of hypocalcemia Calcium deposition in necrotic tissue Healing phase of bone disease Dietary calcium deficiency Hyperphosphatemia Miscellaneous causes of hypocalcemia Laboratory approach to hypocalcemia Hypercalcemia Hyperparathyroidism Intraoperative parathyroid hormone measurements Nonparathyroid hormone-dependent causes of hypercalcemia Laboratory approach to hypercalcemia Laboratory monitoring of bone turnover Other bone diseases with possible laboratory implications Conclusions Acknowledgment References Chapter-11---Laboratory-evaluation-of-endocr_2021_Handbook-of-Diagnostic-End 11 Laboratory evaluation of endocrine hypertension Introduction Definition of hypertension Definition of hypertension in children Causes of hypertension Laboratory evaluation of hypertension in adults Laboratory evaluation of hypertension in children Endocrine hypertension and mechanisms Physiology Laboratory notes Mechanisms of sodium retention (mechanism 1) Hyperaldosteronism (mechanism 1a1) Fludrocortisone suppression test Oral salt loading or IV saline infusion Captopril challenge test Laboratory notes Renin-dependent hyperaldosteronism (also known as hyperreninemic hyperaldosteronism) (mechanism 1a1) Renin-secreting tumors (mechanism 1a1) Renovascular hypertension (mechanism 1a1) Renin-independent hyperaldosteronism (mechanism 1a1) Renin-independent hyperaldosteronism, sporadic causes (mechanism 1a1) Aldosterone-producing adenoma Bilateral adrenal hyperplasia Renin-independent hyperaldosteronism, inherited causes (mechanism 1a1) Glucocorticoid-remediable aldosteronism (familial hyperaldosteronism type I) (mechanism 1a1) Laboratory notes Familial aldosterone-producing adrenal adenomas or hyperplasia (familial hyperaldosteronism type II) (mechanism 1a1) Laboratory notes KCNJ5 mutation (familial hyperaldosteronism type III) (mechanism 1a1) Laboratory notes Excess desoxycorticosterone (mechanism 1a1) Desoxycorticosterone-secreting tumors (mechanism 1a1) 11β-Hydroxylase deficiency (mechanism 1a1) CYP17 deficiency (mechanism 1a1) Laboratory notes Excess cortisol (mechanism 1a1) Cushing syndrome (mechanism 1a1) Laboratory notes Cortisol resistance (mechanism 1a1) Laboratory notes Excess sex steroids (mechanism 1a1) Laboratory notes End-organ disorders causing ENaC activation: Apparent mineralocorticoid excess, mineralocorticoid receptor gain-of-function... Apparent mineralocorticoid excess (mechanism 1a2) Laboratory notes Mineralocorticoid receptor gain-of-function mutations (mechanism 1a2) Laboratory notes ENaC gain-of-function mutations (mechanism 1a2) Laboratory notes Insulin resistance (mechanism 1b): obesity, type 2 diabetes, the metabolic syndrome, and acromegaly: multiple mechanisms of... Laboratory notes Pheochromocytoma: direct effects on vascular smooth muscle and myocardium (mechanism 2a) Laboratory testing Hyperthyroidism (mechanism 2a) and hypothyroidism Laboratory testing Hypercalcemia: Direct effects on vascular smooth muscle (mechanism 2b) Laboratory testing SIADH: vasopressin excess with direct effects on vascular smooth muscle (mechanism 2c) Laboratory testing Hypertension in pregnancy—abnormal angiogenesis (mechanism 2c) Laboratory testing Approach to the patient References Chapter-12---Malignancy-associated-endocri_2021_Handbook-of-Diagnostic-Endoc 12 Malignancy-associated endocrine disorders Introduction Multiple endocrine neoplasia syndromes [4–6] MEN1 [4–10] Epidemiology Risk and inheritance factors Characterization Diagnostic and screening laboratory tests MEN2 [5,6,7,10–17] Classification Epidemiology Risk and inheritance factors Characterization Diagnostic and screening laboratory tests MEN4 [5–8] Gastrointestinal neuroendocrine tumors Carcinoid tumors Gastrinoma (Zollinger–Ellison syndrome) [5,6,8,18–22] Epidemiology Risk and hereditary factors Pathology Clinical features and laboratory tests Glucagonoma [8,19,21–23] Epidemiology Risk and hereditary factors Pathology Clinical features and laboratory tests Insulinoma [6,8,19,21,24–26] Epidemiology Risk and hereditary factors Pathology Clinical features and laboratory tests Somatostatinoma [19,21–23,27] Epidemiology Risk and hereditary factors Pathology Clinical features and laboratory tests VIPoma (vasoactive intestinal polypeptide) [6,8,19,21–23,28,29] Epidemiology Pathology Clinical features and laboratory tests Adrenal tumors Adrenocortical carcinoma [30–36] Epidemiology Risk and hereditary factors Pathology Clinical features Laboratory tests Tumor imaging Neuroblastoma [1,37–42] Epidemiology Risk and inheritance factors Pathology Clinical features Laboratory tests Tumor imaging Pheochromocytoma [17,26,43–46] Epidemiology Risk and hereditary factors Pathology Clinical features and laboratory tests Tumor imaging Parathyroid and thyroid tumors Parathyroid [47–53] Epidemiology Risk and hereditary factors Pathology Clinical features Laboratory tests Tumor imaging and surgery Thyroid [1,11–13,15,54–60] Epidemiology Risk and hereditary factors Pathology Clinical features Laboratory tests Other tests Tumor imaging References Chapter-13---Laboratory-assessment-of-acquired-imm_2021_Handbook-of-Diagnost 13 Laboratory assessment of acquired immunodeficiency syndrome endocrinopathies Lipid, glucose, and fat metabolism Thyroid disorders Infections and neoplasms Thyroid function test profile Adrenal disorders Infection and neoplasm Glucocorticoids Mineralocorticoids Gonadal function Females Pituitary function Hyponatremia Bone and mineral metabolism Tenofovir-induced hypophosphataemia Other Autoantibodies Endocrine and metabolic emergencies Conclusions References Chapter-14---Laboratory-evaluation-of-short-s_2021_Handbook-of-Diagnostic-En 14 Laboratory evaluation of short stature in children Introduction Definition of short stature Short stature with normal growth velocity Familial short stature Constitutional delay in growth and adolescence Primordial short stature Short stature with low growth velocity Chronic disease Turner syndrome Psychosocial short stature Endocrinopathies Hypothyroidism Growth hormone deficiency Growth hormone testing Growth hormone treatment Insulin-like growth factor-I, insulin-like growth factor-II, and insulin-like growth factor binding protein-3 Insulin-like growth factor-I as a therapeutic agent Insulin-like growth factor-I mutations Type I insulin-like growth factor receptor mutations Evaluation of individuals diagnosed with growth hormone deficiency Other endocrine and genetic causes of short stature Conclusion Acknowledgment References Chapter-15---Pregnancy-and-the-fetu_2021_Handbook-of-Diagnostic-Endocrinolog 15 Pregnancy and the fetus Introduction Feto-placental unit Diagnosis and dating of pregnancy Conception and implantation Placenta Placental hormones: pituitary Human chorionic gonadotropin Placental growth hormone Human placental lactogen Placental adrenocorticotropic hormone Placental hormones: hypothalamus Gonadotropin-releasing hormone Corticotropin-releasing hormone Thyrotropin-releasing hormone Other placental hormones Pregnancy-associated plasma protein A Insulin-like growth factors I and II Angiogenic factors Inhibin and activin Placental steroid hormones Progesterone Estrogens Fetal endocrine function Hypothalamus and pituitary Fetal thyroid Fetal gonads Fetal adrenal glands Maternal endocrine function Hypothalamus and pituitary Parathyroid glands Thyroid Normal thyroid function in pregnancy Hyperemesis gravidarum Maternal thyroid disease Screening for thyroid disease during pregnancy Laboratory assessment of thyroid function in pregnancy Maternal adrenal function Abnormal pregnancies Ectopic pregnancy Preeclampsia Laboratory testing in preeclampsia Trophoblastic disease HELLP Preterm delivery and premature rupture of membranes Preterm delivery Premature rupture of membranes Fetal lung maturity Surfactant/albumin ratio Lamellar body count Lecithin to sphingomyelin ratio Phosphatidylglycerol Prenatal screening for fetal defects Multiple of the median Neural tube defects Trisomy 21 Trisomy 18 Trisomy 13 Sex chromosome aneuploidies Biochemical prenatal screening First trimester serum screen Quad screen Combined first and second trimester screening Cell-free DNA screening References Chapter-16---Disorders-of-sexual-develo_2021_Handbook-of-Diagnostic-Endocrin 16 Disorders of sexual development Introduction Genitalia: structure and development A clinical and laboratory approach to disorders of sexual development Initial evaluation of persons with a disorder of sexual development Sex chromosome disorders of sexual development Sex chromosome disorders of sexual development—X-chromosome anomalies Turner syndrome Laboratory findings – Trisomy (triple) X Laboratory findings – 46, XX sex-reversed male Laboratory findings – Sex chromosome disorders of sexual development—Y-chromosome anomalies Klinefelter syndrome Laboratory findings – 47, XYY Laboratory findings – 46, XYp- Laboratory findings – 46, XY sex-reversed female Laboratory findings – Sex chromosome disorders of sexual development—X- and Y-chromosome anomalies Mixed gonad dysgenesis Laboratory findings – Sex chromosome disorders of sexual development—ovotesticular disorders of sexual development Laboratory findings Sex chromosome disorders of sexual development—summary 46, XY disorders of sexual development 46, XY disorders of sexual development—failure of normal testicular development Complete gonadal dysgenesis Laboratory findings – Partial gonadal dysgenesis Laboratory findings – Gonadal regression Laboratory findings Testosterone—a Leydig cell marker Use of testosterone measurements as a testicular marker – INSL3—a Leydig cell marker Use of INSL3 as a testicular marker – Inhibin B—a Sertoli cell marker Use of inhibin B as a testicular marker – Anti-Mullerian hormone—a Sertoli cell marker Use of anti-Mullerian hormone as a testicular marker – 46, XY disorders of sexual development—gonadotropin deficiency Laboratory findings 46, XY disorders of sexual development—inborn errors in testosterone synthesis CYP17 deficiency Laboratory findings – 17-ketosteroid reductase deficiency Laboratory findings – Note for completeness – 3 beta-hydroxysteroid dehydrogenase-delta4,5isomerase deficiency Laboratory findings – Cytochrome P450 oxidoreductase (POR) deficiency Laboratory findings – 46, XY disorders of sexual development— dihydrotestosterone synthesis abnormalities Laboratory findings 46, XY disorders of sexual development—disorders of androgen action Complete androgen insensitivity Incomplete (partial) androgen insensitivity Laboratory findings – 46, XY disorders of sexual development—deficient anti-Mullerian hormone action Laboratory findings 46, XY disorders of sexual development—isolated and/or complex Genitourinary (GU) malformations Laboratory findings 46, XY-chromosome disorders of sexual development—summary 46, XX disorders of sexual development 46, XX disorders of sexual development—disorders of ovarian development 46, XX disorders of sexual development—fetal androgen excess Virilizing forms of congenital adrenal hyperplasia 21-hydroxylase deficiency Laboratory findings – 11-beta hydroxylase deficiency Laboratory findings – CYP17 deficiency Laboratory findings – Nonadrenal fetal androgen excess Laboratory findings – Maternal androgen exposure Laboratory findings – 46, XX disorders of sexual development—isolated or complex malformations affecting the female 46, XX chromosome disorders of sexual development—summary Approaching the laboratory diagnosis of disorders of sexual development Sex chromosome disorders of sexual development 46, XY disorders of sexual development 46, XX disorders of sexual development Considerations References Chapter-17---Transgender-endocrinolo_2021_Handbook-of-Diagnostic-Endocrinolo 17 Transgender endocrinology Introduction Transgender adolescents Diagnosing gender dysphoria in minors Monitoring for puberty onset Beginning pubertal suppression Initiating gender-affirming hormones Fertility concerns Feminizing therapies Masculinizing Overarching concerns References Chapter-18---The-endocrinology-of-agi_2021_Handbook-of-Diagnostic-Endocrinol 18 The endocrinology of aging Background Hypothalamic-pituitary-gonadal/adrenal androgen axes Menopause and its biochemical features Gonadotropins, inhibins, and anti-Müllerian hormone Estradiol and progesterone Sex hormone binding globulin Pituitary human chorionic gonadotropin in females Testosterone deficiency in older males Declines in dehydroepiandrosterone its sulfate ester Hypothalamic-pituitary-somatotropic axis Growth hormone Insulin-like growth factor 1 Hypothalamic-pituitary-adrenal axis Dexamethasone suppression Twenty-four-hour urinary cortisol and salivary cortisol Salivary cortisol Conclusions on screening for Cushing’s syndrome Adrenocorticotropic hormone stimulation Hypothalamic-pituitary-thyroidal axis Mild abnormalities: normal aging or disease? Paradoxes and presumed benefits Overt thyroid dysfunction The effect of comorbidities Clinical management Conclusion Appendix 1: Tabular summary of physiological changes References Index_2021_Handbook-of-Diagnostic-Endocrinology Index
