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Sommario
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 5¿-Reductase 2 Deficiency
8B. Marsupial Pathway of Steroid 5¿ 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
