This issue of Endocrinology and Metabolism Clinics, guest edited by Dr. Constantine A. Stratakis, is devoted to Genetics in Endocrine Disorders. Articles in this issue include: Genetics of Short Stature; Genetics of Diabetes Insipidus; Pituitary Hypoplasia; Pituitary Tumor Genetics and Associated Syndromes; Defects of Thyroid Hormone Synthesis; Molecular Genetics of Thyroid Cancer; Genetics of Hyperparathyroidism Including Parathyroid Cancer; Genetics of Adrenocortical Development and Tumors; Genetics of Congenital Adrenal Hyperplasia; Genetics of Pheochromocytomas and Related Conditions; Genetics of Multiple Endocrine Neoplasia Type 1 and Type 2 Syndromes; Genetics of Hypogonadotrophic Hypogonadism and Kallman Syndrome; Disorders of Sex Development; Genetics of Lipodystrophy; and PTEN-Spectrum Disorders.
1. Introduction - p. 335 2. Sporadic pituitary adenomas - p. 337 3. Familial pituitary adenomas - p. 340 4. Multiple endocrine neoplasia type 1 syndrome - p. 349 5. Multiple endocrine neoplasia type 4 syndrome - p. 352 6. Carney complex - p. 353 7. Pheochromocytomas/paragangliomas and pituitary adenomas - p. 355 8. Pituitary blastoma and DICER1 mutations - p. 358 9. Mccune-albright syndrome - p. 358 10. Summary - p. 359 11. Supplementary data - p. 360 12. Defects of Thyroid Hormone Synthesis and Action - p. 375 13. Molecular Genetics of Thyroid Cancer in Children and Adolescents - p. 389 14. Genetics of Hyperparathyroidism, Including Parathyroid Cancer - p. 405 15. Genetics of Adrenocortical Development and Tumors - p. 419 16. Genetics of Congenital Adrenal Hyperplasia - p. 435 17. Genetics of Pheochromocytomas and Paragangliomas: An Overview on the Recently Implicated Genes MERTK, MET, Fibroblast Growth Factor Receptor 1, and H3F3A - p. 459 18. Genetics of Multiple Endocrine Neoplasia Type 1/Multiple Endocrine Neoplasia Type 2 Syndromes - p. 491 19. Clinical Implications for Germline PTEN Spectrum Disorders - p. 503 20. Genetics of Disorders of Sex Development: The DSD-TRN Experience - p. 519 21. Genetics of Lipodystrophy - p. 539 22. Index - p. 555
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This issue of Endocrinology and Metabolism Clinics, guest edited by Dr. Constantine A. Stratakis, is devoted to Genetics in Endocrine Disorders. Articles in this issue include: Genetics of Short Stature; Genetics of Diabetes Insipidus; Pituitary Hypoplasia; Pituitary Tumor Genetics and Associated Syndromes; Defects of Thyroid Hormone Synthesis; Molecular Genetics of Thyroid Cancer; Genetics of Hyperparathyroidism Including Parathyroid Cancer; Genetics of Adrenocortical Development and Tumors; Genetics of Congenital Adrenal Hyperplasia; Genetics of Pheochromocytomas and Related Conditions; Genetics of Multiple Endocrine Neoplasia Type 1 and Type 2 Syndromes; Genetics of Hypogonadotrophic Hypogonadism and Kallman Syndrome; Disorders of Sex Development; Genetics of Lipodystrophy; and PTEN-Spectrum Disorders.
1. Introduction - p. 335 2. Sporadic pituitary adenomas - p. 337 3. Familial pituitary adenomas - p. 340 4. Multiple endocrine neoplasia type 1 syndrome - p. 349 5. Multiple endocrine neoplasia type 4 syndrome - p. 352 6. Carney complex - p. 353 7. Pheochromocytomas/paragangliomas and pituitary adenomas - p. 355 8. Pituitary blastoma and DICER1 mutations - p. 358 9. Mccune-albright syndrome - p. 358 10. Summary - p. 359 11. Supplementary data - p. 360 12. Defects of Thyroid Hormone Synthesis and Action - p. 375 13. Molecular Genetics of Thyroid Cancer in Children and Adolescents - p. 389 14. Genetics of Hyperparathyroidism, Including Parathyroid Cancer - p. 405 15. Genetics of Adrenocortical Development and Tumors - p. 419 16. Genetics of Congenital Adrenal Hyperplasia - p. 435 17. Genetics of Pheochromocytomas and Paragangliomas: An Overview on the Recently Implicated Genes MERTK, MET, Fibroblast Growth Factor Receptor 1, and H3F3A - p. 459 18. Genetics of Multiple Endocrine Neoplasia Type 1/Multiple Endocrine Neoplasia Type 2 Syndromes - p. 491 19. Clinical Implications for Germline PTEN Spectrum Disorders - p. 503 20. Genetics of Disorders of Sex Development: The DSD-TRN Experience - p. 519 21. Genetics of Lipodystrophy - p. 539 22. Index - p. 555
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