Genetics of Endocrine Diseases and Syndromes

Abstract

Part 1: Basics of Genetics -- Chapter 1. Basic concepts ofgenetics -- Chapter 2. Brief description of inheritance patterns -- Chapter 3. Family screening and genetic counseling -- Chapter 4. Brief summary of the most important molecular genetic methods (PCR, qPCR, microarray, next generation sequencing etc.) -- Part 2: Endocrine diseases inherited as monogenic traits: Alterations of hormones and hormone receptors -- Chapter 5. Syndromes of resistance to thyroid hormone action -- Chapter 6. Glucocorticoid resistance.-Part 3: Endocrine diseases inherited as monogenic traits: Hereditary diseases predisposing to endocrine tumors -- Chapter 7. Overview of genetically determined diseases/multiple endocrine neoplasia syndromes predisposing to endocrine tumors -- Chapter 8. Hereditary diseases predisposing to pheochromocytoma (VHL, NF-1, paraganglioma syndromes and novel genes) -- Chapter 9. Diseases predisposing to adrenocortical malignancy (Li-Fraumeni syndrome, Beckwith-Wiedemann-syndrome, Carney-complex) -- Chapter 10. Genetics of pituitary tumors -- Chapter 11. Timeline of advances in genetics of primary aldosteronism -- Chapter 12. Congenital adrenal hyperplasia -- Part 4: Endocrine diseases inherited as monogenic traits: Monogenic diseases predisposing to hormone deficiency, infertility and diabetes mellitus -- Chapter 13. Pituitary transcription factor mutations leading to hypopituitarism -- Chapter 14. Hereditary neurohypophyseal diabetes insipidus -- Chapter 15. Nephrogenic diabetes insipidus -- Chapter 16. Monogenic forms of male infertility (including androgen resistance) -- Chapter 17. Genetic causes of female infertility -- Chapter 18. Monogenicforms of diabetes mellitus -- Part 5: Example of a multifactorial disease and chromosomal alterations in endocrine diseases -- Chapter 19. Genetics of obesity -- Chapter 20. Chromosomal aberrations with endocrine relevance (Turner-syndrome, Klinefelter-syndrome, Prader-Willi syndrome).