Genetic Steroid Disorders

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