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!
1. Chapter 1 Introduction - p. 1 2. Chapter 2 Adrenal development - p. 5 3. Chapter 3A Congenital adrenal hyperplasia owing to 21-hydroxylase deficiency - p. 35 4. Chapter 3B Steroid 11β-hydroxylase deficiency and related disorders - p. 63 5. Chapter 3C 3β-Hydroxysteroid dehydrogenase deficiency - p. 81 6. Chapter 3D Genetic deficiencies of cytochrome P450c17 (CYP17A1) combined 17-hydroxylase/17,20-lyase deficiency and isolated 17,20-lyase deficiency - p. 95 7. Chapter 4A The history of prenatal diagnosis of congenital adrenal hyperplasia☆☆ This chapter was co-authored by Denesy Mancenido and Maria I. New in the first edition - p. 111 8. Chapter 4B Contemporary prenatal genetic diagnosis for congenital adrenal hyperplasia: preimplantation genetic testing and maternal cell-free DNA - p. 123 9. Chapter 5 The impact of genetic steroid disorders on human fertility - p. 131 10. Chapter 6 Atypical genitalia in the newborn - p. 145 11. Chapter 7 Growth hormone treatment in children with congenital adrenal hyperplasia - p. 159 12. Chapter 8 Bone mineral density and skeletal outcomes in congenital adrenal hyperplasia - p. 169 13. Chapter 9 Treatment and outcome of congenital adrenal hyperplasia: current reconstructive surgery - p. 179 14. Chapter 10 Psychoendocrinology of congenital adrenal hyperplasia - p. 187 15. Chapter 11 Disorders in the initial steps in steroidogenesis - p. 217 16. Chapter 12 P450 oxidoreductase deficiency - p. 239 17. Chapter 13 Aromatase in human physiology and pathology: implications of human aromatase deficiency - p. 265 18. Chapter 14A The genetics of ovotesticular differences of sex development - p. 285 19. Chapter 14B 46,XY differences of sex development (DSD) due to 17β-hydroxysteroid dehydrogenase type 3 deficiency - p. 289 20. Chapter 14C Spectrum of activation and inactivation of gene for the luteinizing hormone chorionic gonadotrophin receptor - p. 301 21. Chapter 15 Steroid 5α-reductase 2 deficiency - p. 309 22. Chapter 16 Androgen insensitivity syndrome - p. 327 23. Chapter 17 The Persistent Müllerian Duct Syndrome - p. 343 24. Chapter 18A Clinical diagnosis and treatment of apparent mineralocorticoid excess - p. 355 25. Chapter 18B The history, biology, and pathophysiology of apparent mineralocorticoid excess - p. 363 26. Chapter 19 Primary aldosteronism: where are we now? - p. 367 27. Chapter 20 Nuclear receptors and coactivators - p. 373 28. Chapter 21 Genetics of adrenal tumors - p. 381 29. Chapter 22 Genetic factors in Cushing disease pathogenesis - p. 393 30. Chapter 23 Debates and controversies in genetic steroid disorders - p. 401 31. Chapter 24 Geographical endocrinology of genetic steroid disorders - p. 407 32. Chapter 25A Animal models of adrenal genetic disorders - p. 415 33. Chapter 25B Steroidogenesis across species: aldo keto reductases in marsupials, fish and humans - p. 423 34. Index - p. 435
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!
1. Chapter 1 Introduction - p. 1 2. Chapter 2 Adrenal development - p. 5 3. Chapter 3A Congenital adrenal hyperplasia owing to 21-hydroxylase deficiency - p. 35 4. Chapter 3B Steroid 11β-hydroxylase deficiency and related disorders - p. 63 5. Chapter 3C 3β-Hydroxysteroid dehydrogenase deficiency - p. 81 6. Chapter 3D Genetic deficiencies of cytochrome P450c17 (CYP17A1) combined 17-hydroxylase/17,20-lyase deficiency and isolated 17,20-lyase deficiency - p. 95 7. Chapter 4A The history of prenatal diagnosis of congenital adrenal hyperplasia☆☆ This chapter was co-authored by Denesy Mancenido and Maria I. New in the first edition - p. 111 8. Chapter 4B Contemporary prenatal genetic diagnosis for congenital adrenal hyperplasia: preimplantation genetic testing and maternal cell-free DNA - p. 123 9. Chapter 5 The impact of genetic steroid disorders on human fertility - p. 131 10. Chapter 6 Atypical genitalia in the newborn - p. 145 11. Chapter 7 Growth hormone treatment in children with congenital adrenal hyperplasia - p. 159 12. Chapter 8 Bone mineral density and skeletal outcomes in congenital adrenal hyperplasia - p. 169 13. Chapter 9 Treatment and outcome of congenital adrenal hyperplasia: current reconstructive surgery - p. 179 14. Chapter 10 Psychoendocrinology of congenital adrenal hyperplasia - p. 187 15. Chapter 11 Disorders in the initial steps in steroidogenesis - p. 217 16. Chapter 12 P450 oxidoreductase deficiency - p. 239 17. Chapter 13 Aromatase in human physiology and pathology: implications of human aromatase deficiency - p. 265 18. Chapter 14A The genetics of ovotesticular differences of sex development - p. 285 19. Chapter 14B 46,XY differences of sex development (DSD) due to 17β-hydroxysteroid dehydrogenase type 3 deficiency - p. 289 20. Chapter 14C Spectrum of activation and inactivation of gene for the luteinizing hormone chorionic gonadotrophin receptor - p. 301 21. Chapter 15 Steroid 5α-reductase 2 deficiency - p. 309 22. Chapter 16 Androgen insensitivity syndrome - p. 327 23. Chapter 17 The Persistent Müllerian Duct Syndrome - p. 343 24. Chapter 18A Clinical diagnosis and treatment of apparent mineralocorticoid excess - p. 355 25. Chapter 18B The history, biology, and pathophysiology of apparent mineralocorticoid excess - p. 363 26. Chapter 19 Primary aldosteronism: where are we now? - p. 367 27. Chapter 20 Nuclear receptors and coactivators - p. 373 28. Chapter 21 Genetics of adrenal tumors - p. 381 29. Chapter 22 Genetic factors in Cushing disease pathogenesis - p. 393 30. Chapter 23 Debates and controversies in genetic steroid disorders - p. 401 31. Chapter 24 Geographical endocrinology of genetic steroid disorders - p. 407 32. Chapter 25A Animal models of adrenal genetic disorders - p. 415 33. Chapter 25B Steroidogenesis across species: aldo keto reductases in marsupials, fish and humans - p. 423 34. Index - p. 435
