Maria I. New,
Bert O'Malley,
Gary D. Hammer,
Oksana Lekarev,
Alan Parsa,
Mone Zaidi,
Tony T. Yuen,
Ahmed Khattab,
Anne MacDonald,
Anne McDonald
e.a.
Elsevier Science
e druk, 2023
9780128214244
Genetic Steroid Disorders
Specificaties
Paperback, blz.
|
Engels
Elsevier Science |
2023
ISBN13: 9780128214244
Rubricering
Levertijd ongeveer 9 werkdagen
Gratis verzonden
Samenvatting
Genetic Steroid Disorders, Second Edition targets adult and pediatric endocrinologists, clinical geneticists, genetic counselors, reproductive endocrinologists, neonatologists, urologists, and psychoendocrinologists. It is designed to assist these specialists in the diagnosis and treatment of steroid disorders. This revision includes a new chapter on "Gonadotropins, Obesity and Bone" and new research on non-invasive prenatal diagnosis with cell-free DNA. Chapters are thoroughly updated covering steroid disorders, the genetic bases for the disorder and case presentations, This definitive reference belongs in every medical library!
Specificaties
Inhoudsopgave
1. Introduction<br>2. Adrenal Development<br>3A. Congenital Adrenal Hyperplasia Owing to 21 Hydroxylase Deficiency<br>3B. Growth Hormone Therapy to Improve Adult Height in Patients with Congenital Adrenal Hyperplasia<br>3C. Bone Mineral Density and Skeletal Outcomes in Congenital Adrenal Hyperplasia<br>3D. Steroid 11B-Hydroxylase Deficiency and Related Disorders<br>3E. 3B-Hydroxysteroid Dehydrogenase Deficiency<br>3F. Genetic Deficiencies for Cytochrome P450 (CYP17A1): Combined 17 Hydroxylase/17,20 Lyase Deficiency and Isolated 17,20 Lyase Deficiency<br>4. Disorders in the Initial Steps in Steroidogenesis<br>5. P450 Oxidoreductase Deficiency (PORD)<br>6. Aromatase Deficiency<br>7. 46XY DSD due to 17bHydroxysteroid Dehydrogenase 3 Deficiency<br>8A. Steroid 5α-Reductase 2 Deficiency<br>8B. Marsupial Pathway of Steroid 5α Reductase Deficiency in Humans<br>9. Androgen Insensitivity Syndrome<br>10. Persistent Müllerian Duct Syndrome<br>11A. Apparent Mineralocorticoid Excess (AME)<br>11B. History, Biology, Pathophysiology of AME<br>11C. Primary Aldosteronism: Where are we now?<br>12. Nuclear Receptor Co-regulators<br>13. Genetics of Adrenal Tumors<br>14. Genetic Factors in Cushing Disease Pathogenesis<br>15. The Genetics of Ovotesticular Disorders of Sexual Development<br>16A. Impact of Genetic Steroid Disorders on Human Fertility<br>16B. Ambiguous Genitalia in Newborns<br>16C. Prenatal Diagnosis of Congenital Adrenal Hyperplasia<br>16D. Preimplantation Diagnosis of Congenital Adrenal Hyperplasia<br>17. Psychoendocrinology of Congenital Adrenal Hyperplasia<br>18. Treatment and Outcome of Congenital Adrenal Hyperplasia: Current Reconstructive Surgery<br>19. Debates and Controversies in Genetic Steroid Disorders<br>20. Geographical Endocrinology of Genetic Steroid Disorders<br>21. Animal Models of Adrenal Steroid Disorders<br>22A. Case Reports: Extreme Presentations from Inactivation and Hyperactivation of the LH receptor (LHCGR) action<br>22B. Case Reports: Unsolved Mysteries of Steroid Disorders