Genetic Steroid Disorders
Editat de Maria I. New, Bert O'Malley, Gary D. Hammer, Oksana Lekarev, Alan Parsa, Tony T. Yuen, Mone Zaidi, Ahmed Khattab, Anne MacDonalden Limba Engleză Paperback – 19 iun 2023
- Presents a comprehensive, translational look at all aspects of genetic steroid disorders in one reference work
- Provides a common language for endocrinologists, geneticists, molecular pathologists, and genetic counselors to discuss and diagnose genetic steroid disorders Saves clinicians and researchers time in quickly accessing the very latest details on genetic tests and diagnoses as opposed to searching through thousands of journal articles
- Highlights significant discoveries with clinical relevance, presenting insight into which medications to use based on the genetic makeup of a patient
- Teaches the best strategies and most effective use of genetic information in the patient counseling setting
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Specificații
ISBN-13: 9780128214244
ISBN-10: 0128214244
Pagini: 468
Ilustrații: 160 illustrations (110 in full color)
Dimensiuni: 216 x 276 mm
Greutate: 1.27 kg
Ediția:2
Editura: ELSEVIER SCIENCE
ISBN-10: 0128214244
Pagini: 468
Ilustrații: 160 illustrations (110 in full color)
Dimensiuni: 216 x 276 mm
Greutate: 1.27 kg
Ediția:2
Editura: ELSEVIER SCIENCE
Cuprins
1. Introduction
2. Adrenal Development
3A. Congenital Adrenal Hyperplasia Owing to 21 Hydroxylase Deficiency
3B. Growth Hormone Therapy to Improve Adult Height in Patients with Congenital Adrenal Hyperplasia
3C. Bone Mineral Density and Skeletal Outcomes in Congenital Adrenal Hyperplasia
3D. Steroid 11B-Hydroxylase Deficiency and Related Disorders
3E. 3B-Hydroxysteroid Dehydrogenase Deficiency
3F. Genetic Deficiencies for Cytochrome P450 (CYP17A1): Combined 17 Hydroxylase/17,20 Lyase Deficiency and Isolated 17,20 Lyase Deficiency
4. Disorders in the Initial Steps in Steroidogenesis
5. P450 Oxidoreductase Deficiency (PORD)
6. Aromatase Deficiency
7. 46XY DSD due to 17bHydroxysteroid Dehydrogenase 3 Deficiency
8A. Steroid 5α-Reductase 2 Deficiency
8B. Marsupial Pathway of Steroid 5α Reductase Deficiency in Humans
9. Androgen Insensitivity Syndrome
10. Persistent Müllerian Duct Syndrome
11A. Apparent Mineralocorticoid Excess (AME)
11B. History, Biology, Pathophysiology of AME
11C. Primary Aldosteronism: Where are we now?
12. Nuclear Receptor Co-regulators
13. Genetics of Adrenal Tumors
14. Genetic Factors in Cushing Disease Pathogenesis
15. The Genetics of Ovotesticular Disorders of Sexual Development
16A. Impact of Genetic Steroid Disorders on Human Fertility
16B. Ambiguous Genitalia in Newborns
16C. Prenatal Diagnosis of Congenital Adrenal Hyperplasia
16D. Preimplantation Diagnosis of Congenital Adrenal Hyperplasia
17. Psychoendocrinology of Congenital Adrenal Hyperplasia
18. Treatment and Outcome of Congenital Adrenal Hyperplasia: Current Reconstructive Surgery
19. Debates and Controversies in Genetic Steroid Disorders
20. Geographical Endocrinology of Genetic Steroid Disorders
21. Animal Models of Adrenal Steroid Disorders
22A. Case Reports: Extreme Presentations from Inactivation and Hyperactivation of the LH receptor (LHCGR) action
22B. Case Reports: Unsolved Mysteries of Steroid Disorders
2. Adrenal Development
3A. Congenital Adrenal Hyperplasia Owing to 21 Hydroxylase Deficiency
3B. Growth Hormone Therapy to Improve Adult Height in Patients with Congenital Adrenal Hyperplasia
3C. Bone Mineral Density and Skeletal Outcomes in Congenital Adrenal Hyperplasia
3D. Steroid 11B-Hydroxylase Deficiency and Related Disorders
3E. 3B-Hydroxysteroid Dehydrogenase Deficiency
3F. Genetic Deficiencies for Cytochrome P450 (CYP17A1): Combined 17 Hydroxylase/17,20 Lyase Deficiency and Isolated 17,20 Lyase Deficiency
4. Disorders in the Initial Steps in Steroidogenesis
5. P450 Oxidoreductase Deficiency (PORD)
6. Aromatase Deficiency
7. 46XY DSD due to 17bHydroxysteroid Dehydrogenase 3 Deficiency
8A. Steroid 5α-Reductase 2 Deficiency
8B. Marsupial Pathway of Steroid 5α Reductase Deficiency in Humans
9. Androgen Insensitivity Syndrome
10. Persistent Müllerian Duct Syndrome
11A. Apparent Mineralocorticoid Excess (AME)
11B. History, Biology, Pathophysiology of AME
11C. Primary Aldosteronism: Where are we now?
12. Nuclear Receptor Co-regulators
13. Genetics of Adrenal Tumors
14. Genetic Factors in Cushing Disease Pathogenesis
15. The Genetics of Ovotesticular Disorders of Sexual Development
16A. Impact of Genetic Steroid Disorders on Human Fertility
16B. Ambiguous Genitalia in Newborns
16C. Prenatal Diagnosis of Congenital Adrenal Hyperplasia
16D. Preimplantation Diagnosis of Congenital Adrenal Hyperplasia
17. Psychoendocrinology of Congenital Adrenal Hyperplasia
18. Treatment and Outcome of Congenital Adrenal Hyperplasia: Current Reconstructive Surgery
19. Debates and Controversies in Genetic Steroid Disorders
20. Geographical Endocrinology of Genetic Steroid Disorders
21. Animal Models of Adrenal Steroid Disorders
22A. Case Reports: Extreme Presentations from Inactivation and Hyperactivation of the LH receptor (LHCGR) action
22B. Case Reports: Unsolved Mysteries of Steroid Disorders
Recenzii
Praise for the First Edition:
"Appropriate for both novice and experienced researchers, this collection demonstrates that the genetic basis has been located for each steroid disorder causing clinical and bioclinical abnormalities in patients. Ten of the 31 chapters describe the symptoms, cause, diagnosis, and treatment of the many disorders resulting from congenital adrenal hyperplasia…the definitive treatise belongs in every medical library." --ProtoView.com, February 2014
"[A] comprehensive review of the genetic basis of steroid disorders,.... [that] gives a detailed overview of the mechanisms of steroid pathophysiology and each chapter addresses a different enzymatic defect.... All levels of clinicians from students to attendings in pediatric or adult endocrinology, family medicine, urology or genetics would benefit from this textbook.... This edition discusses in detail the clinical and biochemical abnormalities of steroid enzyme alterations. The chapters on congenital adrenal hyperplasia even go further to elaborate on the topic of bone health and psychosocial health in these individuals. The chapters on geographic distribution of disorders as well as controversial topics were interesting and practical topics.... There are no other comparable textbooks on this topic." --©Doody’s Review Service, 2024, Mindy Li, MD (Rush University Medical Center)
"Appropriate for both novice and experienced researchers, this collection demonstrates that the genetic basis has been located for each steroid disorder causing clinical and bioclinical abnormalities in patients. Ten of the 31 chapters describe the symptoms, cause, diagnosis, and treatment of the many disorders resulting from congenital adrenal hyperplasia…the definitive treatise belongs in every medical library." --ProtoView.com, February 2014
"[A] comprehensive review of the genetic basis of steroid disorders,.... [that] gives a detailed overview of the mechanisms of steroid pathophysiology and each chapter addresses a different enzymatic defect.... All levels of clinicians from students to attendings in pediatric or adult endocrinology, family medicine, urology or genetics would benefit from this textbook.... This edition discusses in detail the clinical and biochemical abnormalities of steroid enzyme alterations. The chapters on congenital adrenal hyperplasia even go further to elaborate on the topic of bone health and psychosocial health in these individuals. The chapters on geographic distribution of disorders as well as controversial topics were interesting and practical topics.... There are no other comparable textbooks on this topic." --©Doody’s Review Service, 2024, Mindy Li, MD (Rush University Medical Center)