Genetics of Endocrine Diseases and Syndromes (Experientia Supplementum)

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).