UID:
almahu_9948025766802882
Format:
1 online resource (xiii, 392 pages, 16 unnumbered pages of plates) :
,
illustrations (some color), maps
ISBN:
0-12-391467-1
Series Statement:
Gale eBooks
Content:
This is a comprehensive book addressing steroid disorders from hormonal, genetic, psychological, and surgical perspectives. It is meant to educate adult and pediatric endocrinologists, clinical geneticists, genetic counselors, reproductive endocrinologists, neonatologists, urologists, and psychoendocrinologists. It will assist these specialists in the diagnosis and treatment of steroid disorders. The book is written for postgraduate and faculty-level physicians. The content consists of steroid disorders, genetic bases for the disorder and case presentations of each disorder. 〈ul
Note:
Description based upon print version of record.
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Front Cover; Genetic Steroid Disorders; Copyright; Dedication; Contents; Preface; Contributors; Chapter 1 - Introduction; References; Chapter 2 - Adrenal Development; INTRODUCTION; ADRENAL ORGANOGENESIS; MOLECULAR MECHANISMS THAT REGULATE ADRENAL DEVELOPMENT; ADRENAL DISEASES; References; Chapter 3A - Congenital Adrenal Hyperplasia Owing to 21-Hydroxylase Deficiency; INTRODUCTION; ENDOCRINE FUNCTION OF THE ADRENAL CORTEX; THE ADRENAL CORTEX AS TWO GLANDS; PATHOGENESIS OF 21-HYDROXYLASE DEFICIENCY; CLASSICAL CAH; NON-CLASSICAL CAH; DIAGNOSIS (HORMONAL AND GENETIC)
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MOLECULAR MECHANISMS CREATING CYP21A2 GENETIC DEFECTSCLINICAL FEATURES; TREATMENT; PRENATAL DIAGNOSIS AND TREATMENT; References; Chapter 3B - The History of Prenatal Diagnosis of Congenital Adrenal Hyperplasia; INTRODUCTION; HORMONAL MEASUREMENTS IN AMNIOTIC FLUID; MOLECULAR GENETICS; DEXAMETHASONE TREATMENT AND CONTROVERSY; NON-INVASIVE PRENATAL DIAGNOSIS; FETAL SEX DETERMINATION; FUTURE DIRECTIONS; SUMMARY; References; Chapter 3C - Growth Hormone Therapy to Improve Adult Height in Patients with Congenital Adrenal Hyperplasia; INTRODUCTION; ADULT HEIGHT IN CAH
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FACTORS AFFECTING ADULT HEIGHT IN CAHSTUDIES WITH GROWTH HORMONE TREATMENT TO IMPROVE ADULT HEIGHT IN CAH; CONCLUSION; References; Chapter 3D - Steroid 11β-Hydroxylase Deficiency and Related Disorders; INTRODUCTION; BIOCHEMISTRY OF ADRENAL STEROID BIOSYNTHESIS; GENETICS OF STEROID 11Β-HYDROXYLASE ISOZYMES; STEROID 11Β-HYDROXYLASE DEFICIENCY; ALDOSTERONE SYNTHASE (CORTICOSTERONE METHYLOXIDASE) DEFICIENCY; GLUCOCORTICOID-SUPPRESSIBLE HYPERALDOSTERONISM; Acknowledgments; References; Chapter 3E - Ambiguous Genitalia in Newborns; INTRODUCTION; TYPICAL SEX DETERMINATION AND DIFFERENTIATION
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DISORDERS OF SEX DEVELOPMENT (DSD)OTHER CATEGORIES OF AMBIGUOUS GENITALIA; WORK-UP OF NEWBORNS WITH AMBIGUOUS GENITALIA; DIFFERENTIAL DIAGNOSIS; GENDER OF REARING; PARENTS AND CAREGIVERS OF CHILDREN WITH AMBIGUOUS GENITALIA; CONCLUSIONS; References; Chapter 3F - 3β-Hydroxysteroid Dehydrogenase Deficiency; THE 3Β-HSD FAMILY: AMINO ACID SEQUENCES AND ACTIVITIES; EPIDEMIOLOGY; CLINICAL FORMS; BIOLOGICAL DIAGNOSIS; MOLECULAR DIAGNOSIS; RELATIONSHIP BETWEEN GENOTYPE AND PHENOTYPE OF PATIENTS; PUBERTY AND FERTILITY; STRUCTURE-FUNCTION RELATIONSHIP; TREATMENT; References
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Chapter 3G - Genetic Deficiencies of Cytochrome P450c17 (CYP17A1): Combined 17-Hydroxylase/17,20-Lyase Deficiency and Isolated 17,20-Lyase DeficiencySTRUCTURE OF THE GENE AND MAPPING IN THE HUMAN GENOME; GENETIC DEFECTS - MUTATION; HORMONAL ABNORMALITIES; DIAGNOSIS BASED ON STRUCTURE OF THE GENE AND MUTATIONS; EPIDEMIOLOGY; ETHNIC DIVERSITY AND CLUSTERS OF THE DEFECT; PSYCHOENDOCRINE ABNORMALITIES RESULTING FROM THE ENZYMATIC DEFECT; TREATMENT: MEDICAL AND SURGICAL; LONG-RANGE OUTCOME: MEDICAL AND PSYCHOLOGICAL (GENDER, COGNITION); LIFE CAREERS; PRISMATIC CASES
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PRENATAL DIAGNOSIS AND TREATMENT
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English
Additional Edition:
ISBN 0-12-416006-9
Additional Edition:
ISBN 1-299-81919-2
Language:
English
