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Genetic diagnosis of endocrine disorders /

Since the beginning of the current century, endocrine disease diagnosis and treatment have moved beyond the standard hormone measurements. While, indeed elevated thyroid hormone levels or low insulin levels signal a specific endocrine disease, correct diagnosis (and therefore correct treatment) depe...

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Detalles Bibliográficos
Clasificación:Libro Electrónico
Otros Autores: Weiss, Roy E., Refetoff, Samuel
Formato: Electrónico eBook
Idioma:Inglés
Publicado: Amsterdam ; Boston : Academic Press/Elsevier, 2010.
Edición:1st ed.
Colección:ClinicalKey.
Temas:
Acceso en línea:Texto completo
Tabla de Contenidos:
  • Mechanisms of Mutation
  • Section 2: Pancreas
  • Genetic Testing in Diabetes Mellitus: A Clinical Guide to Monogenic Diabetes
  • Obesity
  • Syndromes of Severe Insulin Resistance and/or Lipodystrophy
  • Section 3: Pituitary
  • Functioning Pituitary Adenomas
  • Diabetes Insipidus
  • States of Pituitary Hypofunction
  • Section 4: Thyroid
  • Congenital Defects of Thyroid Hormone Synthesis
  • Developmental Abnormalities of the Thyroid
  • Syndromes of Reduced Sensitivity to Thyroid Hormone
  • Molecular Genetics of Thyroid Cancer: Pathogenetic Significance and Clinical Applications
  • Section 5: Parathyroid and Bone
  • Genetics of Hyperparathyroidism Including Parathyroid Cancer
  • Genetic Diagnosis of Skeletal Dysplasias
  • Vitamin D Disorders
  • Section 6: Adrenal
  • Congenital Adrenal Hyperplasia
  • Genetics of Adrenocortical Tumors (ACT) and Hypersecretory Syndromes
  • Hereditary Pheochromocytoma and Multiple Endocrine Neoplasia type 2 (MEN2)
  • Genetic Conditions Associated with Congenital Adrenocortical Insufficiency or Glucocorticoid and/or Mineralocorticoid Resistance
  • Section 7: Reproductive
  • Genetic Considerations in the Evaluation of Menstrual Cycle Irregularities
  • Genetic Diagnosis of Hypogonadotropic Hypogonadism and Kallmann Syndrome
  • Disorders of Sex Development
  • Genetic Defects of Androgen Resistance
  • Section 8: Multisystem Disorders
  • Multiple Endocrine Neoplasia Type 1 (MEN1)
  • Genetics of Polyglandular Failure
  • Section 9: Growth
  • Genetic Diagnosis of Growth Failure
  • Section 10: Counseling and Laboratory
  • Genetic Counseling
  • Setting up a Laboratory.