Handbook of Diagnostic Endocrinology

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