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9780398075545

Principles And Practice Of Pediatric Endocrinology

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  • ISBN13:

    9780398075545

  • ISBN10:

    0398075549

  • Edition: 1st
  • Format: Hardcover
  • Copyright: 2005-07-01
  • Publisher: THOMAS CHARLES C PUBLISHER
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Table of Contents

Foreword vii
Acknowledgments ix
Organization and Function of the Endocrine System
3(74)
Allen W. Root
Alan D. Rogol
Introduction
5(7)
Integration of the Neural, Endocrine, and Immune Systems
10(2)
Hormone Synthesis
12(15)
Protein Synthesis
12(2)
Gene Transcription
14(4)
Post-transcriptional Processing/Translation
18(1)
Post-translational Processing
19(2)
Mitochondrial DNA
21(2)
Secretion of Peptide Hormones
23(2)
Circulation of Protein Hormones
25(1)
Degradation and Modification of Protein Hormones and Receptors
25(1)
Signal Transduction Pathways
26(1)
Guanosine Triphosphate Protein-Coupled Receptors
27(12)
Structure
27(4)
Signal Transduction through G Protein-coupled Receptors
31(3)
Targets of G Protein-coupled Receptors
34(1)
Adenylyl Cyclase
34(1)
Protein Kinase A, Protein Kinase C, Phospholipase C
34(1)
Mitogen-activated Protein Kinase
35(1)
Ion and Water Channels
35(3)
Paracellular Ion Transport
38(1)
Sodium/Solute Transport Proteins
38(1)
Tyrosine Kinase Receptors
39(12)
Structure
39(1)
Insulin and Insulin-like Growth Factor Receptors
40(1)
Growth Hormone and Prolactin Receptors
41(1)
Cytokine Receptors
42(1)
Transforming Growth Factor Receptors
42(1)
Fibroblast and Epidermal Growth Factor Receptors
43(1)
Signal Transduction
44(2)
Phosphotidylinositol 3-Kinase
46(2)
Signal Transducer and Activator of Transcription
48(1)
Mitogen-activated Protein Kinases
49(1)
Mothers against Decapentaplegic
50(1)
Hormones That Act Within the Nucleus
51(14)
Nuclear Receptors
52(4)
Receptor Transport
56(1)
Hormone Response Elements
57(1)
Steroid Transcriptional Coregulators
57(3)
Disorders due to Resistance to the Steroid/Thyroid/Vitamin D Receptors
60(2)
Nongenomic Actions of Steroid Hormones
62(1)
Criteria for Defining Nongenomic Action of Steroid Hormones
62(3)
Regulation of Appetite
65(4)
References
69(8)
Normal Growth and Growth Disorders
77(140)
David B. Allen
Susan R. Rose
Edward O. Reiter
Normal Growth
79(13)
Phases of Normal Growth
79(1)
Measurement
80(2)
Growth Charts
82(1)
Body Proportions
82(1)
Skeletal Maturation
82(10)
Prediction of Adult Height
92(1)
Parental Target Height
92(1)
Endocrine Regulation of Growth
92(15)
Growth Hormone
92(1)
Age-related Issues in Growth Hormone Secretion
92(1)
Embryology of Hypothalamus and Pituitary
92(2)
Fetal Development
94(1)
Infancy
95(1)
Childhood
95(1)
Adolescence
95(1)
Adulthood
96(1)
Growth Hormone Synthesis and Secretion
96(1)
Overview
96(1)
Chemistry of Growth Hormone
96(1)
Neuroendocrine Control of Growth Hormone Secretion
96(4)
Growth Hormone Action
100(1)
Cellular Interaction
100(1)
Metabolic Effects
100(1)
IGF and IGF-binding Proteins
101(1)
IGF Chemistry
102(1)
IGF Genes
102(1)
Developmental Changes in Serum Levels of IGF Peptides
103(2)
IGF Receptors
105(1)
IGF-binding Proteins
106(1)
IGFBP Chemistry
106(1)
IGFBPs as Carrier Proteins
107(1)
IGFBPs as Modulators of IGF Action
107(1)
Growth Impairment
107(27)
Primary Growth Abnormalities
108(1)
Osteochondroplasias
108(1)
Achondroplasia
109(1)
Hypochondroplasia
109(1)
Secondary Growth Disorders: Malnutrition and Chronic Diseases
110(1)
Endocrine and Metabolic Disorders
110(1)
IGF-I Deficiency
110(16)
Possible Partial GHI: Idiopathic Short Stature and Heterozygous Defects of GH Receptor
126(1)
Hypothyroidism
127(1)
Cushing Syndrome
128(1)
Pseudohypoparathyroidism
128(1)
Rickets
128(1)
Diabetes Mellitus
129(1)
Inborn Errors of Metabolism
130(1)
Constitutional Delay of Growth and Maturation
130(1)
Genetic (Familial) Short Stature
131(1)
General Assessment of the Child with Poor Growth
132(2)
Treatment of Growth Disorders
134(31)
Growth Hormone Therapy -- Overview
134(2)
Treatment of GH/IGF-I Deficiency
136(5)
Final Height of Treated GHD Patients
141(1)
Transition to Adult GH Therapy
142(3)
IGF-I Treatment of GH Insensitivity Syndrome
145(1)
Causes of Short Stature Other Than GHD That May Respond to GH Therapy
145(1)
GH Treatment of Idiopathic Short Stature
145(3)
Intrauterine Growth Restriction
148(3)
Turner Syndrome
151(5)
Prader-Willi Syndrome
156(3)
Down syndrome
159(1)
Noonan Syndrome
159(1)
Other Chromosomal Abnormalities
160(1)
Chondrodysplasias
160(1)
Systemic Causes of Growth Failure
161(1)
Chronic Renal Failure
161(1)
Inflammatory Conditions and Catabolic States
162(1)
Glucocorticoid Dependency
162(2)
Hypophosphatemic Rickets
164(1)
Nonlinear Growth Effects of GH Therapy
165(4)
Metabolic Effects of GH in Children
165(1)
Potential Adverse Effects of GH Therapy
166(1)
Development or Recurrence of Malignancy
166(1)
Pseudotumor Cerebri
167(1)
Slipped Capital Femoral Epiphysis
168(1)
Diabetes Mellitus
168(1)
Miscellaneous Potential Adverse Effects
168(1)
Ethical Considerations in GH Therapy
169(1)
Treatment Options for Constitutional Delay in Growth and Puberty
170(2)
Tall Stature and Overgrowth Disorders
172(5)
Intrauterine Overgrowth
172(1)
Constitutional Tall Stature
173(1)
Growth Hormone Excess
174(1)
Other Genetic Syndromes Associated with Tall Stature
175(2)
References
177(27)
Atlas
204(13)
Case 2.1 -- Septo-optic Dysplasia
204(1)
Case 2.2A-C -- Growth Hormone Deficiency, Isolated or with Multiple Hormone Deficiencies
204(2)
Case 2.3 -- Familial GH Deficiency
206(1)
Case 2.4 -- GH Deficiency after Cranial Irradiation
206(2)
Case 2.5 -- GH Insensitivity (Laron-type Dwarfism)
208(2)
Case 2.6 -- Turner Syndrome (45, X)
210(2)
Case 2.7 -- Mosaic Turner Syndrome (45, X/46, XX)
212(1)
Case 2.8 -- Prader-Willi Syndrome
213(1)
Case 2.9 -- Chondrodystrophy
214(1)
Case 2.10 -- Growth Retardation and Adrenal Suppression after High-Dose Inhaled Steroids
215(1)
Case 2.11 -- Cerebral Gigantism (Sotos Syndrome)
216(1)
Puberty and its Disorders
217(62)
Mitchell E. Geffner
Roberto Lanes
Jon M. Nakamoto
An Overview of the Pubertal Process
219(9)
Introduction
219(1)
Developmental Changes
219(1)
Basic Endocrinology of Puberty
219(1)
Timing of Physical Changes of Puberty
219(1)
Fetal Development: Setting the Stage for Puberty
219(1)
Anatomic Organization of GnRH Neurons and Development of Pulsatile GnRH Secretion
220(1)
Development of the Anterior Pituitary Gland and Pituitary Gonadotropes
221(1)
Organization of the Fetal Gonad and Onset of Sex Steroid Secretion
221(1)
Infancy: Dress Rehearsal for Puberty
221(1)
Boys
221(1)
Girls
222(1)
Childhood: Quiet Activity behind the Scenes
222(1)
Adolescence: The Main Performance
223(1)
Neuroendocrine Control of Pubertal Onset
223(1)
Reactivation of the GnRH Pulse Generator
224(1)
Changes in Gonadotropin Secretion Patterns
224(1)
Feedback Control of Gonadotropin Release
224(1)
Gonadal Steroids and Sex Hormone-binding Globulins
225(1)
Boys
225(1)
Girls
226(2)
Gonadal Peptides
228(1)
Inhibin
228(1)
Activins and Follistatin
229(1)
Adrenarche
229(1)
Pubertal Changes of the Growth Hormone/Insulin-Like Growth Factor-1 Axis
230(1)
The Role of Leptin in Puberty
231(1)
Physical Changes of Puberty
232(10)
General Comments Regarding Studies on the Timing of Puberty
232(1)
Factors Affecting the Timing of Puberty
233(1)
Genetic Factors
233(1)
Body Mass Index/Nutritional Factors
233(1)
Chronic Illness
234(1)
Changes in Secondary Sexual Characteristics during Puberty: Girls
234(1)
Thelarche
234(1)
Timing of Breast Development
234(2)
Pubarche
236(1)
Menarche
237(1)
Other Physical Changes
238(1)
Changes in Secondary Sexual Characteristics during Puberty: Boys
238(1)
Testicular Enlargement
238(1)
Changes in External Genitalia
239(1)
Pubarche
240(1)
Other Physical Changes
240(1)
Growth During Puberty
241(1)
Body Proportions
241(1)
Bone Mineral Density
242(1)
Precocious Puberty
242(8)
Normal Variants
242(1)
Premature Thelarche
242(1)
Premature Adrenarche
243(1)
Precocious Menarche
244(1)
Etiologies of Precocious Puberty
244(1)
Isosexual Central Precocious Puberty
244(1)
Precocious Pseudopuberty
245(1)
Androgen Overproduction
245(1)
Estrogen Overproduction
246(1)
Diagnostic Approach to Precocious Puberty
246(2)
Treatment of Precocious Puberty
248(1)
General Issues
248(1)
Central Precocious Puberty
248(2)
Precocious Pseudopuberty
250(1)
Delayed Puberty
250(10)
Introduction and Definitions
250(1)
Hypogonadism of Central Nervous System Origin
251(1)
Isolated Gonadotropin Deficiency
251(1)
Gonadotropin Deficiency with Growth Hormone Deficiency with or without Other Pituitary Hormone Deficiencies
252(1)
Evaluation of Patients with Low Serum Gonadotropin Concentrations
253(2)
Hypogonadism and/or Infertility of Gonadal Origin
255(1)
Congenital: Female Phenotype
255(1)
Congential: Male Phenotype
256(1)
Acquired: Female Phenotype
257(1)
Acquired: Male Phenotype
257(1)
Acquired: Female or Male Phenotype
257(1)
Evaluation of Patients with Elevated Serum Gonadotropin Concentrations
258(1)
Amenorrhea in the Presence of Sexual Development
258(1)
Treatment
259(1)
Gynecomastia
260(2)
Differential Diagnosis
260(2)
Diagnostic Evaluation
262(1)
Treatment
262(1)
Hirsutism/Polycystic Ovarian Syndrome
262(3)
Differential Diagnosis
262(1)
Diagnostic Evaluation
262(2)
Treatment
264(1)
References
265(8)
Atlas
273(6)
Case 3.1 -- Central Precocious Puberty
273(1)
Case 3.2 -- Virilizing Adrenal Adenoma
273(1)
Case 3.3 -- Familial Leydig Cell Hyperplasia (Testotoxicosis)
274(1)
Case 3.4 -- Virilization from Topical Testosterone
274(1)
Case 3.5 -- McCune-Albright Syndrome
275(1)
Case 3.6 -- Hypogonadism of CNS Origin
276(1)
Case 3.7 -- Turner Syndrome
276(1)
Case 3.8 -- Gynecomastia Associated with Klinefelter Syndrome
277(1)
Case 3.9 -- Gynecomastia Associated with Feminizing/Virilizing Adrenal Adenoma
278(1)
Case 3.10 -- Polycystic Ovarian Syndrome
278(1)
The Thyroid Gland and its Disorders
279(78)
Stephen H. LaFranchi
Cheryl E. Hanna
History of Pediatric Thyroid Disease
280(3)
Hypothalamic-Pituitary-Thyroid Axis: Anatomy and Physiology: Development of Normal Thyroid Physiology
283(11)
Embryology and Ontogeny of the Thyroid and Its Function
283(1)
Morphogenesis
283(1)
Physiological Maturation
284(2)
Perinatal Thyroid Physiology
286(2)
Hypothalamic-Pituitary Control of Thyroid Function
288(2)
Thyroid Hormonogenesis and Hormone Transport
290(1)
Thyrocyte Membrane Receptors
290(1)
Hormonogenesis
291(1)
Transport
292(1)
Peripheral Thyroid Hormone and Metabolism and Action
292(1)
Metabolism
292(1)
Action at the Cellular Level
292(2)
Thyroid Disorders
294(42)
Congenital Hypothyroidism
294(1)
Incidence
294(1)
Etiologies
294(3)
Clinical Manifestations
297(1)
Diagnostic Studies
298(3)
Treatment
301(2)
Prognosis
303(1)
Central Hypothyroidism
304(1)
Acquired Hypothyroidism
304(1)
Epidemiology
304(1)
Etiologies
304(4)
Clinical Manifestations
308(1)
Diagnostic Studies
309(1)
Treatment
310(1)
Prognosis
311(1)
Hyperthyroidism
311(1)
Neonatal Hyperthyroidism
312(3)
Graves Disease in Childhood
315(6)
Other Causes of Hyperthyroidism/Thyrotoxicosis in Childhood
321(3)
Thyroiditis
324(1)
Acute Suppurative Thyroiditis
324(1)
Subacute Granulomatous Thyroiditis (de Quervain Disease)
325(1)
Goiter
326(1)
Hemiagenesis
326(1)
Colloid Goiter
326(1)
Thyroid Cysts
327(1)
Thyroid Nodules and Cancer
328(1)
Benign Thyroid Neoplasms
328(2)
Malignant Thyroid Nodules
330(6)
References
336(7)
Appendix. Thyroid Function Tests
343(1)
Table 4.12 -- Thyroid Function Tests: Normal Range in Infants and Children
343(1)
Table 4.13 -- Thyroid Function Tests: Normal Range in Premature Infants -- First Week of Life
343(1)
Table 4.14 -- Miscellaneous Thyroid Function Tests: Normal Ranges
343(1)
Atlas
343(14)
Case 4.1 -- Congenital Hypothyroidism in a 6-Week-Old Girl (Prescreening Era)
344(1)
Case 4.2 -- Congenital Hypothyroidism in a 15-Year-Old Girl (Prescreening Era)
344(1)
Case 4.3 -- Congenital Hypothyroidism Due to Transplacental Antibody
345(1)
Case 4.4 -- Compensated Congenital Hypothyrodism and Goiter Due to Transplacental PTU
346(1)
Cases 4.5 a/b -- Sublingual and Lingual Thyroid Glands
347(1)
Case 4.6 -- Long-standing Hypothyroidism with Rapid Pubertal Tempo after Treatment
347(1)
Case 4.7 -- Autoimmune Hypothyroidism and Spontaneous Central Precocious Puberty
348(2)
Case 4.8 -- Autoimmune Hypothyroidism with Secondary Enlargement of the Pituitary Gland
350(2)
Case 4.9 -- Neonatal Thyrotoxicosis due to Transplacental Thyroid Stimulating Immunoglobulin
352(1)
Case 4.10 -- Autoimmune Hyperthyroidism and Exophthalmos (Graves Disease)
353(1)
Case 4.11 -- Hyperthyroidism without Ophthalmopathy or Positive Antibody Titer
354(1)
Case 4.12 - Thyroglossal Duct Abscess
355(1)
Case 4.13 - Multiple Endocrine Neoplasia (MEN) Type 2B
356(1)
The Adrenal Gland and its Disorders
357(130)
Patricia A. Donohoue
Historical Background
358(1)
General Principles of Adrenal Cortex Function
359(35)
Physiology
359(1)
Anatomy, Histology and Embryology of the Adrenal Gland
359(3)
Chemical Content of Adrenocortical Tissue
362(1)
Biosynthesis of Adrenocortical Steroids
362(7)
Control of Adrenal Steroid Secretion
369(6)
Circulating Hormones and Body Distribution
375(2)
Test of Adrenocortical Secretion
377(1)
Tests Relative to Glucocorticoid Secretion
377(4)
Tests Related To Mineralocorticoid Secretion
381(2)
Tests of Adrenal Androgen Secretion
383(2)
Tests of Adrenal Estrogen and Progestin Secretion
385(1)
Adrenocortical Function at Various Stages of Life
386(1)
Pregnancy
386(1)
Fetal Life
387(2)
Delivery, Birth, and Neonatal Period
389(1)
Childhood and Puberty
390(1)
Adulthood and Aging
390(1)
Adrenocortical Function in Stress
390(1)
Adrenocortical Function in Various Disorders
391(1)
Obesity
391(1)
Malnutrition
391(1)
Thyroid Disorders
391(1)
Hepatic Disease
391(1)
Renal Disease
391(1)
Inhibitors
391(1)
Actions of Glucocorticoids, Mineralocorticoids, and Adrenal Androgens
392(1)
Glucocorticoids
392(1)
Mineralocorticoids
393(1)
Androgens
394(1)
Hypoadrenocorticism
394(43)
Primary Hypoadrenocorticism
395(1)
Congenital Aplasia (or Hypoplasia) of the Adrenal Glands
396(1)
X-Linked Congenital Adrenal Hypoplasia
397(1)
Adrenocortical Unresponsiveness to ACTH
397(1)
Congenital Adrenal Hyperplasia Due to Deficiency of 21-Hydroxylase (CYP21 Deficiency)
398(20)
CAH Due to Deficiency of 11β-Hydroxylase (CY11B1 Deficiency)
418(2)
Congenital Adrenal Hyperplasia Due to Deficiency of 17α-Hydroxylase (CYP17 Deficiency)
420(3)
Congenital Adrenal Hyperplasia Due to Hyperplasia Deficiency of 3β-Hydroxysteroid Dehydrogenase
423(2)
Congenital Lipoid Adrenal Hyperplasia (StAR Deficiency)
425(1)
Adrenoleukodystrophy (Siemerling-Creutzfeldt Disease; Schilder Disease)
426(2)
Acid Lipase Deficiency (Wolman Disease)
428(1)
Steroid Sulfatase Deficiency (X-Linked Ichthyosis)
428(1)
Defects in Aldosterone Production
429(1)
Adrenal Hemorrhage of the Newborn
430(1)
Adrenal Hemorrhage Associated with Infection
430(1)
Chronic Hypoadrenocorticism (Addison Disease)
431(2)
Hypoadrenocorticism Secondary to Deficient ACTH Secretion
433(3)
Hypoadrenocorticism Related to End-organ Unresponsiveness
436(1)
Unresponsiveness of the Kidney to Aldosterone
436(1)
Cortisol Resistance
436(1)
Hyperadrenocorticism
437(13)
Cushing Sindrome
438(1)
Clinical Manifestations
438(1)
Laboratory Diagnosis
439(1)
Differentiating the Hypercortisolism of Cushing Syndrome from That of Obesity
440(2)
Determining the Etiology of Hypercortisolism
442(1)
Additional Procedures for the Determination of the Etiology of Hypercortisolism
442(1)
Treatment
443(1)
Virilizing Tumors
444(1)
Clinical Manifestations
445(1)
Abnormalities of Steroid Secretion: Androgens in Urine and Blood
445(1)
Pathology
445(1)
Diagnosis
445(1)
Differential Diagnosis
446(1)
Treatment
446(1)
Feminizing Tumors
446(1)
Clinical Manifestations
446(1)
Abnormalities of Steroid Secretion
446(1)
Pathology
446(1)
Diagnosis
446(1)
Differential Diagnosis
447(1)
Treatment
447
Hyperaldosteronism
446(4)
Disorders of the Adrenal Medulla
450(5)
Normal Hormone Physiology
450(1)
Tests of Adrenal Medullary Function
451(1)
Clinical Entities
452(3)
References
455(18)
Atlas
473(14)
Case 5.1 -- Addison Disease
473(1)
Cases 5.2-5.4 -- Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency in Three Newborn Females
474(1)
Cases 5.5-5.9 -- Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency in Five Girls
475(1)
Case 5.10 -- Progressive Virilization from Untreated Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency in a 16-Year-Old Female
476(1)
Cases 5.11-5.14 -- Nonclassical (``Late Onset'') Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
477(1)
Case 5.15 -- Congenital Adrenal Hyperplasia with Testicular Adrenal Rests
478(1)
Case 5.16 -- Cushing Syndrome Due to Adrenocortical Carcinoma in a 5-Month-Old Female Infant
479(1)
Case 5.17 -- Cushing Syndrome Due to Adrenal Carcinoma in a 10.7-Year-Old Boy
479(2)
Case 5.18 -- Cushing Disease
481(1)
Case 5.19 -- Virilizing Adrenal Tumor in a 4.8-Year-Old Boy
482(1)
Case 5.20 -- Virilizing Adrenal Tumor in a 5.5-Year-Old Girl
483(1)
Case 5.21 -- Feminizing Adrenal Tumor in a 5.5-Year-Old Boy
484(1)
Case 5.22 -- Feminizing Adrenal Tumor in a 3.3-Year-Old Girl
485(2)
Errors of Sexual Differentiation
487(90)
Peter A. Lee
Eric Vilain
Selma F. Witchel
Christopher P. Houk
Introduction
489(1)
Normal Sexual Development
489(7)
Chromosomal Sex
489(1)
Mitosis
490(1)
Meiosis
491(2)
Fertilization
493(1)
Embryology of the Reproductive System
493(1)
Gonadal Ridges
493(1)
Differentiation of the Testis and Ovary
494(2)
Sexual Differentiation
496(10)
Gonadal Hormones
496(1)
Differentiation of the External Genitalia
497(2)
Differentiation of the Genital Ducts
499(1)
Gonadal Differentiation--Genes
499(1)
Genes Involved in Early Gonadal Development
500(1)
Sex-Determining Genes
501(4)
Signaling Sex Determination
505(1)
A Genetic Model for Mammalian Sex Determination
505(1)
Summary
506(1)
Errors of Sexual Differentiation
506(11)
Abnormalities of Gonadal Differentiation with Normal External Genital Differentiation
507(3)
Turner Syndrome
510(3)
46, XX Gonadal (Ovarian) Dysgenesis
513(1)
Multiple X Syndromes
513(1)
Abnormal Gonadal Differentiation with Abnormal External Genital Differentiation
513(1)
Concomitant Ovarian and Testicular Differentiation (True Hermaphroditism)
513(2)
Mixed Gonadal Dysgenesis
515(1)
XX Sex Reversal
516(1)
XY Sex Reversal, Including 46, XY Gonadal Dysgenesis
516(1)
Leydig Cell Aplasia or Hypoplasia
517(1)
Virilized 46, XX Females (Female Pseudohermaphroditism)
517(4)
Congenital Virilizing Adrenal Hyperplasias
517(1)
21-Hydroxylase Deficiency
518(1)
11β-Hydroxylase Deficiency
519(1)
3β-Hydroxysteroid Dehydrogenase Deficiency
520(1)
Placental Aromatase Deficiency
520(1)
Maternal Hyperandrogenism
521(1)
Endocrine Disruptors
521(1)
Inadequately Virilized 46, XY Males (Male Pseudohermaphroditism)
521(9)
Testicular Dysgenesis
521(1)
Leydig Cell Aplasia or Hypoplasia
521(1)
Steroidogenic Enzyme Defects: Testes and Adrenal
522(1)
Congenital Lipoid Adrenal Hyperplasia
522(2)
CYP11A1 (P450scc) Mutation
524(1)
3β-Hydroxysteroid Dehydrogenase Deficiency
524(1)
17α-Hydroxylase/17,20-Lyase Deficiency (CYP17)
525(1)
Testicular Steroidogenic Enzyme Defects
525(1)
Isolated 17,20-Lyase Deficiency
525(1)
17β-Hydroxysteroid Dehydrogenase Deficiency
525(1)
Androgen Target Tissue Defects
526(1)
5α-Reductase Deficiency
526(1)
Androgen Insensitivity Syndromes (Defects in Androgen Action)
527(3)
Unexplained Causes of Inadequate Virilization of 46, XY Individuals
530(1)
Other Problems of Male Differentiation or Development
530(3)
Micropenis
530(1)
Measurements of Penile Size
530(1)
Standards for Penile Size
530(1)
Etiology
531(1)
Diagnosis
532(1)
Management
532(1)
Cryporchidism
532(1)
Prevalence
532(1)
Testicular Descent
532(1)
Treatment
533(1)
Infertility
533(1)
Gonadal Tumors
533(1)
Adequately Virilized Males with Other Disorders of Differentiation
534(3)
Primary (Hypergonadotropic) Hypogonadism
534(1)
Klinefelter Syndrome
535(1)
Other Disorders Associated with Excessive Number of Sex Chromosomes
536(1)
Other Forms of Primary Hypogonadism
536(1)
Secondary (Hypogonadotropic) Hypogonadism
536(1)
Kallmann Syndrome
537(1)
Persistent Mullerian Duct Syndrome (PMDS)
537(1)
Genital Anomalies Associated with Other Malformations
537(1)
Approach to the Infant with Ambiguous External Genitalia
537(9)
Clinical Assessment
538(1)
Medical History
538(1)
Physical Examination
538(1)
Laboratory Studies
539(1)
Treatment
540(1)
Prenatal Treatment of Adrenal Hyperplasia
540(1)
Therapy for Gonadal Failure
541(1)
Issues for Consideration of Counseling
542(1)
Psychological Aspects
543(3)
References
546(9)
Atlas
555(22)
Case 6.1 -- 46, XX True Hermaphroditism
555(1)
Case 6.2 -- 45, X/46/XY Gonadal Dysgenesis
556(1)
Case 6.3 -- 45, X/46, XY (with a Marker Y Chromosome) Mixed Gonadal Dysgenesis
557(1)
Case 6.4 -- 46, XY Partial (Asymmetrical) Gonadal Dysgenesis
558(1)
Case 6.5 -- Krukenberg Tumor, Gonadotropin-dependent, Causing Virilization of a Female Infant during Pregnancy
559(1)
Cases 6.6 and 6.7 -- Testicular Regression Syndrome and Multiple Congenital Anomalies
560(1)
Case 6.8 -- Congenital Lipoid Adrenal Hyperplasia
560(2)
Case 6.9 -- 17-Ketosteroid Reductase Deficiency
562(1)
Case 6.10 -- 5α-Reductase Deficiency
562(2)
Case 6.11 -- Complete Androgen Insensitivity in a Newborn
564(1)
Case 6.12 -- Complete Androgen Insensitivity in an Adult
565(1)
Case 6.13 -- Complete Androgen Insensitivity in an Adult
566(1)
Case 6.14 -- Partial Androgen Insensitivity
567(1)
Case 6.15 and 6.16 -- Unclassified Causes of Inadequate Virilization of 46, XY Individuals
568(2)
Case 6.17 -- Congenital Absence of the Penis (Aphallia)
570(1)
Case 6.18 -- Klinefelter Syndrome
570(2)
Case 6.19 -- 47, XYY Syndrome
572(1)
Case 6.20 -- Isolated Gonadotropin Deficiency
573(1)
Case 6.21 -- Kallmann Syndrome
574(1)
Case 6.22 -- Anti-mullerian Hormone Deficiency/Resistance
575(2)
Obesity
577(30)
Bruce A. Boston
Introduction
578(1)
Nature Vs. Nurture
578(1)
The ``Thrifty Gene'' Hypothesis
579(1)
The Weight Set Point and Regulation of Energy Homeostasis
579(1)
The Neuroendocrinology of Weight Reduction
580(2)
Adipocyte Hormones
582(3)
Leptin
583(1)
Adiponectin
584(1)
Resistin
585(1)
Acylation-stimulating Protein
585(1)
Effects of Obesity in Hormonal Regulation
585(2)
Thyroid Hormone
585(1)
Growth Hormone
586(1)
Hypothalamus-Pituitary-Adrenal Axis
586(1)
Puberty and Adrenarche
586(1)
Definitions of Overweight and Obesity in Children
587(1)
Assessment of Body Composition
587(4)
Body Fat Distribution
591(1)
Causes of Childhood Obesity
591(3)
General
591(1)
Melanocortin-4 Receptor Mutations
592(1)
Leptin and Leptin Receptor Mutations
593(1)
Proopiomelanocortin Mutations
593(1)
Prohormone Convertase Mutations
594(1)
Consequences of Childhood Obesity
594(5)
Type 2 Diabetes Mellitus
594(1)
Hypertension
595(1)
Hyperlipidemia (Dyslipidemia)
596(1)
Polycystic Ovarian Syndrome
596(1)
Pulmonary Abnormalities
596(1)
Gastrointestinal Disorders
597(1)
Orthopedic Complications
597(1)
Psychosocial Effects of Obesity
598(1)
Adult Consequences of Childhood Obesity
598(1)
Evaluation of the Overweight Child
599(1)
Treatment of Obesity in Children and Adolescents
599(3)
Conclusion
602(1)
References
602(5)
Hypoglycemia
607(28)
Robert J. Ferry
Sherry Franklin
Mitchell E. Geffner
Introduction
608(2)
Historical Context
608(1)
Definition
608(2)
Pathophysiology
610(3)
Overview of Metabolic Pathways
610(1)
Glucose Sensors
610(1)
Regulation of Insulin Secretion
610(1)
Counter-regulation to Hypoglycemia
611(1)
Glucagon
611(1)
Catecholamines
611(1)
Growth Hormone
612(1)
Glucocorticoids
612(1)
Thyroxine
612(1)
Glycogen Synthesis and Degradation
613(1)
Glycolysis, Gluconeogenesis, and the Recycling of Lactate and Alanine
613(1)
Fatty Acid Synthesis, Oxidation, and Ketogenesis
613(1)
Etiologies of Hypoglycemia
613(5)
Overutilization of Glucose
613(1)
Hyperinsulinism
613(3)
Disorders of Fatty Acid Oxidation/Ketone Production or Utilization
616(1)
Underproduction of Glucose
616(1)
Disorders of Glycogenolysis
616(1)
Disorders of Gluconeogenesis, Including ``Ketotic'' Hypoglycemia
617(1)
Counter-regulatory Hormone Deficiencies
618(1)
Evaluation
618(5)
History
618(1)
Physical Examination
618(1)
Hypoglycemia Unawareness
619(1)
Laboratory Findings
619(4)
Treatment
623(1)
Acute Management
623(1)
Disease-specific Therapy
623(1)
Congenital Hyperinsulinism
623(1)
Ketotic Hypoglycemia
624(1)
Glycogen Release Diseases
624(1)
Fatty Acid Oxidation Defects
624(1)
IGF-secreting Lesions
624(1)
Conclusions
624(1)
References
625(4)
Atlas
629(6)
Case 8.1 -- Infant of a Diabetic Mother
629(1)
Case 8.2 -- Transient Hyperinsulinism
630(1)
Case 8.3 -- Persistent Hyperinsulinism
630(1)
Case 8.4 -- Iatrogenic Hyperinsulinemic Hypoglycemia
631(1)
Case 8.5 -- Ingestion of an Oral Hypoglycemic Agent
632(1)
Case 8.6 -- Fasting Functional (``Ketotic'') Hypoglycemia
632(1)
Case 8.7 -- Congenital Anterior Hypopituitarism with Single Central Incisor
633(1)
Case 8.8 -- Primary Adrenal Insufficiency
634(1)
Diabetes Mellitus
635(60)
Leslie P. Plotnick
Georgeanna J. Klingensmith
Janet H. Silverstein
Arlan L. Rosenbloom
Classification of Diabetes
636(9)
Type 1A Diabetes Mellitus (T1ADM)
637(1)
Type 1B Diabetes Mellitus (T1BDM)
638(1)
Type 2 Diabetes Mellitus (T2DM)
638(2)
Laboratory Evaluation to Classify Diabetes
640(1)
Other Specific Types of Diabetes
641(1)
Genetic Defects of β-Cell Function
641(2)
Mutations in Mitochondrial DNA
643(1)
Autosomal Recessive Disorders
643(1)
Genetic Abnormalities in the Insulin Molecule
643(1)
Genetic Defects in Insulin Action
644(1)
Cystic Fibrosis-related Diabetes
644(1)
Drug-associated Diabetes
644(1)
Other Genetic Syndromes
644(1)
Gestational Diabetes
645(1)
Diagnostic Criteria
645(1)
Type I Diabetes Mellitus
646(19)
Epidemiology
646(2)
Etiology
648(3)
Natural History
651(2)
Pathophysiology
653(1)
Treatment and Care Plan
653(1)
Insulin
653(1)
Basal/Bolus Regimens
654(1)
Split/Mixed Regimens
654(1)
Diet
655(1)
Excercise
655(1)
Monitoring
656(1)
Blood Glucose
656(1)
Urine Ketones
657(1)
Hemoglobin A1c
657(1)
Record Keeping
657(1)
Self-care Expectations
657(1)
New Technologies
658(1)
Education
658(1)
Psychosocial Issues
658(1)
Complications and Comorbidities
659(1)
Hypoglycemia
659(1)
Hyperglycemia and Ketonuria
660(1)
Sick Day Management and Medical/Surgical Procedures
660(1)
Diabetic Ketoacidosis (DKA)
661(1)
Treatment
661(1)
Cerebral Edema/Acute Cerebral Events
662(1)
Monitoring
662(1)
Transition to Subcutaneous Insulin
663(1)
Associated Autoimmune Disease
663(1)
Limited Joint Mobility
664(1)
Growth Failure
664(1)
Retinopathy
664(1)
Nephropathy
664(1)
Neuropathy
665(1)
Dyslipidemia and Macrovascular Disease
665(1)
Medical Monitoring
665(1)
Type 2 Diabetes
665(13)
Epidemiology
666(1)
Differentiation from Type 1 Diabetes
667(1)
Diagnosis
667(1)
Pathophysiology
668(1)
Genetic Basis for Insulin Resistance
668(1)
Role of Fetal and Childhood Nutrition
669(1)
Effects of Gender, Puberty, Obesity, and Clinical Hyperandrogenism
669(1)
The Insulin Resistance Syndrome
670(1)
Cardiovascular Risk
670(1)
Acanthosis Nigricans
670(1)
Natural History
670(1)
Testing for T2DM in Children
671(1)
Treatment
671(2)
Comorbidities
673(1)
Retinopathy
673(1)
Nephropathy
673(1)
Hypertension
674(1)
Dyslipidemia
675(2)
Prevention
677(1)
References
678(8)
Atlas
686(9)
Case 9.1 -- Type 2 Diabetes in a 15-Year-Old Obese Caucasian Girl
686(1)
Case 9.2 -- Type 1 Diabetes in a 13-Year-Old Obese African-American Boy
686(2)
Case 9.3 -- Mody Diabetes in a 14-Year-Old Girl
688(1)
Case 9.4 -- Progression of Diabetes Autoimmunity in a 9.5-Year-Old Boy
688(1)
Case 9.5 -- Type 1 Diabetes in a 14-Year-Old Girl
689(1)
Case 9.6 -- Type 1 Diabetes in a 10-Year-Old Female Gymnast: Insulin Pump Therapy
689(1)
Case 9.7 -- Type 1 Diabetes in an 8-Year-Old Girl: Interoperative Insulin Pump Therapy
690(1)
Case 9.8 -- Type 1 Diabetes in a 14-Year-Old Male Athlete
690(1)
Case 9.9 -- Type 1 Diabetes in an 8-Year-Old Male
690(1)
Case 9.10 -- Type 1 Diabetes in a 15-Year-Old Boy: Insulin Therapy during Dental Extraction
690(1)
Case 9.11 -- Type 2 Diabetes in an Obese 10-Year-Old African-American Girl
690(1)
Case 9.12 -- Type 2 Diabetes in an Obese 11.6-Year-Old African-American Boy
691(1)
Case 9.13 -- Type 2 (vs Type 1) Diabetes in an Obese 13-Year-Old Caucasian Girl
692(1)
Case 9.14 -- Type 2 Diabetes in an Obese 9.8-Year-Old African-American Girl
693(1)
Case 9.15 -- Type 2 Diabetes in a 12-Year-Old African-American Boy with Ketoacidosis
693(2)
Disorders of Calcium, Phosphate, Parathyroid Hormone and Vitamin D
695(120)
Michael A. Levine
Carol Zapalowski
Michael S. Kappy
Introduction
697(1)
Calcium, Magnesium and Phosphate Homeostasis
698(28)
Calcium
699(3)
Magnesium
702(1)
Phosphate
703(2)
Bone Metabolism
705(4)
Hormones Regulating Calcium and Phosphate Homeostasis
709(1)
Parathyroid Hormone (PTH)
709(1)
Synthesis and Secretion
709(2)
Metabolism and Mode of Action
711(2)
Action on the Kidney
713(1)
Action on Bone
714(1)
Measurement of PTH in Plasma
714(1)
Vitamin D
715(1)
Sources and Formation
716(1)
Metabolism and Transport
717(2)
Regulation
719(1)
Mode of Action
720(1)
Action on Intestine
721(1)
Action on Bone
722(1)
Action on Kidney
723(1)
Other Effects
723(1)
Plasma Concentrations of Metabolites
723(1)
Calcitonin
724(1)
Synthesis and Secretion
724(1)
Metabolism and Regulation
725(1)
Mode of Action and Biological Effects
726(1)
Measurement in Plasma
726(1)
Neonatal Hypocalcemia
726(2)
Early
727(1)
Late
727(1)
Treatment
728(1)
Disorders of Parathyroid Hormone Secretion or Action
728(23)
Hypoparathyroidism (HP)
728(1)
Classification
728(1)
Transient Neonatal Hypoparathyroidism
728(1)
Aplasia and Hypoplasia of the Parathyroid Glands
729(3)
Familial/Sporadic
732(1)
Autoimmune
733(1)
Pathophysiology and Clinical Manifestations
734(2)
Pseudohypoparathyroidism (PHP)
736(1)
Classification, Pathophysiology and Clinical Manifestations
736(1)
Type 1
736(3)
Type 2
739(1)
Differentiation between Hypoparathyroidism and Pseudohypoparathyroidism
739(1)
Treatment of Hypoparathyroidism and Pseudohypoparathyroidism
740(1)
Magnesium Deficiency
741(2)
Severe Vitamin D Deficiency
743(1)
Primary Hyperparathyroidism
743(1)
Classification
743(1)
Neonatal Primary Hyperparathyroidism
743(1)
Familial Hypocalciuric Hypercalcemia or Familial Hypocalciuric Hypercalcemia (FHH)
744(1)
Parathyroid Adenoma
745(1)
Parathyroid Hyperplasia
746(1)
Multiple Endocrine Neoplasia
747(1)
Pathophysiology and Clinical Manifestations
748(2)
Treatment
750(1)
Secondary Hyperparathyroidism
751(1)
Other Hypercalcemic States
751(9)
Idiopathic Infantile Hypercalcemia (Williams Syndrome)
752(1)
Hypervitaminosis D
753(1)
Hypervitaminosis A
754(1)
Subcutaneous Fat Necrosis
754(1)
Phosphate Depletion
755(1)
Hypophosphatasia (Hypophosphatasemia)
755(2)
Immobilization
757(1)
Miscellaneous Conditions
758(2)
Disorders of Vitamin D: Rickets
760(7)
Classification
760(1)
Vitamin D Deficiency
761(1)
Dietary and/or Lack of Sunlight
761(2)
Hepatic and Intestinal Disorders (Vitamin D, Calcium, and Phosphorus Malabsorption)
763(1)
Anticonvulsant Therapy
764(1)
Vitamin D Dependency Type 1 (1α-Hydroxylase Deficiency)
765(1)
Hereditary Vitamin D Resistance or Vitamin D Dependency Type 2 (End-Organ Resistance)
766(1)
Other Hypophosphatemic States
767(11)
Increased Renal Phosphate Loss
768(1)
X-Linked Hypophosphatemic Rickets (XLH)
768(4)
Autosomal Dominant Hypophosphatemic Rickets (ADHR)
772(1)
Tumor-associated Hypophosphatemia (Tumor-induced Osteomalacia [TIO])
773(1)
Hereditary Hypophosphatemic Rickets with Hypercalciuria
774(1)
Fanconi Syndrome
775(1)
Nephropathic Cystinosis
775(1)
Tyrosinemia Type 1
776(1)
Lowe Syndrome
776(1)
Hereditary Fructose Intolerance
776(1)
Toxic Agents/Wilson Disease
776(1)
Dent Disease
777(1)
Idiopathic
777(1)
Renal Tubular Acidosis Type 1 (RTA-1)
777(1)
Fibrous Dysplasia of Bone (McCune-Albright Syndrome)
777(1)
Decreased Phosphate Intake
777(1)
Rickets of Prematurity
777(1)
Total Parenteral Nutrition
778(1)
Idiopathic Hypercalciuria
778(2)
General
778(1)
Diagnosis and Etiology
779(1)
Treatment
780(1)
Renal Osteodystrophy
780(4)
General
780(1)
Clinical Features
781(1)
Pathophysiology
782(1)
treatment
783(1)
References
784(20)
Atlas
804(11)
Case 10.1 -- DiGeorge Anomaly with Congenital Hypoparathyroidism
804(1)
Case 10.2 -- Familial Hypercalciuric Hypocalcemia
804(1)
Case 10.3 -- Autoimmume Hypoparathyroidism
805(1)
Case 10.4 -- Pseudohypoparathyroidism with Primary Hypothyroidism in a Teenaged Boy
806(1)
Case 10.5 -- Pseudohypoparathyroidism in a Baby with Osteoma Cutis
807(1)
Case 10.6 -- Familial Hypocalciuric (Benign) Hypercalcemia
808(1)
Case 10.7 -- Primary Hyperparathyroidism due to Isolated Parathyroid Adenoma
808(1)
Case 10.8 -- Williams Syndrome
809(1)
Case 10.9 -- Williams Syndrome with Osteosclerosis
810(1)
Case 10.10 -- Infantile Hypophosphatasia
810(1)
Case 10.11 -- Vitamin D Deficiency Rickets
811(1)
Case 10.12 -- Familial (X-linked) Hypophosphatemic Rickets in Sisters
812(1)
Case 10.13 -- Nephropathic Cystinosis with Secondary Fanconi Syndrome and Rachitic Rosary
813(2)
Disorders of the Posterior Pituitary Gland and Water Metabolism
815(42)
Paul Czernichow
Aaron Friedman
Michael S. Kappy
Introduction
816(1)
Regulation of Water Excretion and Intake
816(3)
Ontogeny
819(1)
Classification of Diabetes Insipidus and Diagnostic Procedures
820(2)
Classification
820(1)
Diagnostic Procedures
820(2)
Special Diagnostic Considerations
822(1)
Central Diabetes Insipidus and Tumors
822(1)
Genetic
822(1)
Central Diabetes Insipidus
822(8)
Etiology
822(1)
Diabetes Insipidus Due to Neurosurgery or Head Injury
823(1)
Neurosurgery
823(1)
Head Injury
823(1)
Tumors and Other Infiltrating Processes
823(1)
Diabetes Insipidus and Congenital Malformations of the Brain
824(1)
Thick Pituitary Stalk and Idiopathic Diabetes Insipidus
825(1)
Familial Central Diabetes Insipidus
826(2)
Other Genetic Syndromes of Central Diabetes Insipidus
828(1)
Clinical Presentation
828(1)
Hypodipsia and Diabetes Insipidus
829(1)
Treatment
830(1)
Nephrogenic Diabetes Insipidus
830(4)
Action of Arginine Vasopressin
830(3)
Clinical Presentation
833(1)
Treatment
834(1)
Primary Polydipsia
834(1)
Syndrome of Inappropriate Antidiuretic Hormone Release or Syndrome of Inappropriate Antidiuresis (Siadh)
835(4)
Pathophysiology
835(1)
Differential Diagnosis
836(2)
Treament
838(1)
Cerebral Salt Wasting (CSW)
839(8)
General
839(1)
Cardiovascular Effects of Atrial Natriuretic Hormone (ANH)
840(1)
Renal Effects of Atrial Natriuretic Hormone
841(1)
CNS Effects of Atrial Natriuretic Hormone
842(1)
Endocrine Effects of Atrial Natriuretic Hormone
842(1)
Atrial Natriuretic Hormone in Disease States
842(2)
Etiologic Role of Atrial Natriuretic Hormone in Cerebral Salt Wasting
844(1)
Characteristics of Cerebral Salt Wasting
845(1)
Summary
846(1)
References
847(5)
Atlas
852(5)
Case 11.1 -- Central Diabetes Insipidus and Anterior Hypoituitarism Associated with Thickening of the Hypothamalo-Pitiutary Stalk
852(1)
Case 11.2 -- Nephrogenic Diabetes Insipidus
852(1)
Case 11.3 -- Primary Polydipsia with Paradoxical Renal Unresponsiveness to DDAVP
853(1)
Case 11.4 -- SIADH Followed by Diabetes Insipidus after Brain Injury
853(1)
Case 11.5 -- Hyponatremic Dehydration and Pontine Myelinolysis Complicating Hypopituitarism
854(2)
Case 11.6 -- An Infant with Cerebral Salt Wasting Syndrome
856(1)
Endocrine Consequences of Chronic Illness
857(54)
Philip S. Zeitler
Lillian R. Meacham
David B. Allen
Orit Pinhas-Hamiel
Introduction
858(1)
General Principles
858(1)
Specific Disorders
859(35)
HIV/AIDS
859(1)
Protein Metabolism and Growth
859(2)
Pubertal Development and Gonadal Function
861(1)
Thyroid Function
861(1)
Adrenal Function
861(1)
Cystic Fibrosis
861(1)
Cystic Fibrosis-related Diabetes Mellitus (CFRD)
861(2)
Growth and Puberty
863(1)
Chronic Steroid-dependent Conditions
863(1)
Growth Suppression
864(1)
Inhaled Steroids
865(3)
Treatment Options
868(2)
Osteopenia/Osteoporosis
870(4)
Sickle Cell Anemia/Thalassemia Major
874(1)
Cancer
874(1)
Growth
875(1)
Pathophysiology of Growth Disorders in Children Treated for Cancer
875(3)
Monitoring and Diagnosis
878(1)
Treatment
879(1)
Thyroid Function
879(1)
Pathophysiology of Thyroid Disorders in Children Treated for Cancer
879(1)
Monitoring and Diagnosis
879(2)
Treatment
881(1)
Adrenal Function
881(1)
Pathophysiology
881(1)
Monitoring and Diagnosis
881(1)
Treatment
882(1)
Gonadal Function
882(1)
Precocious Puberty
882(2)
Central (Hypogonadotropic) Hypogonadism
884(1)
Hypergonadotropic Hypogonadism--Ovarian
885(1)
Hypergonadotropic Hypogonadism--Testicular
886(1)
Pregnancy
887(1)
Antidiuretic Hormone
887(1)
Pathophysiology
887(1)
Monitoring and Diagnosis
888(1)
Treatment
888(1)
Chronic Renal Failure
888(1)
Growth
888(2)
Secondary Hyperparathyroidism
890(2)
Gastrointestinal Disorders
892(1)
Celiac Disease
892(1)
Crohn Disease
892(1)
Rheumatoid Disorders
893(1)
Anorexia Nervosa
893(1)
Growth
893(1)
Reproduction
893(1)
Thyroid Function
893(1)
Osteoporosis
894(1)
References
894(9)
Atlas
903(8)
Case 12.1 -- Primary Hypothyroidism and Growth Hormone Deficiency after Chemotherapy and Total Body Irradiation Preceding Hematopoietic Stem Cell Transplantation
903(1)
Case 12.2 -- Growth Retardation Secondary to Chronic Inflammatory Bowel Disease
904(2)
Case 12.3 -- Growth Retardation Secondary to Chronic Asthma and Glucocorticoid Therapy
906(2)
Case 12.4 -- Hypogonadism and Glucocorticoid-Induced Growth Retardation and Osteoporosis Complicating Muscular Dystrophy
908(3)
Appendix 911(4)
Index 915

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