BOOK
Genetics of Endocrine Disorders, An Issue of Endocrinology and Metabolism Clinics of North America E-Book
(2017)
Additional Information
Book Details
Abstract
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.
Table of Contents
| Section Title | Page | Action | Price |
|---|---|---|---|
| Front Cover | Cover | ||
| Genetics of Endocrine Disorders\r | i | ||
| Copyright\r | ii | ||
| Contributors | iii | ||
| CONSULTING EDITORS | iii | ||
| EDITOR | iii | ||
| AUTHORS | iii | ||
| Contents | vii | ||
| Foreword: Updates in the Genetics of Endocrine Disorders | vii | ||
| Preface: Genetics and the New (Precision) Medicine and Endocrinology: In Medias Res or Ab Initio? | vii | ||
| Pituitary Hypoplasia | vii | ||
| Genetics of Short Stature | vii | ||
| Molecular and Genetic Aspects of Congenital Isolated Hypogonadotropic Hypogonadism | vii | ||
| Genetics of Diabetes Insipidus | viii | ||
| Genetic Aspects of Pituitary Adenomas | viii | ||
| Defects of Thyroid Hormone Synthesis and Action | viii | ||
| Molecular Genetics of Thyroid Cancer in Children and Adolescents | viii | ||
| Genetics of Hyperparathyroidism, Including Parathyroid Cancer | ix | ||
| Genetics of Adrenocortical Development and Tumors | ix | ||
| Genetics of Congenital Adrenal Hyperplasia | ix | ||
| Genetics of Pheochromocytomas and Paragangliomas: An Overview on the Recently Implicated Genes MERTK, MET, Fibroblast Growt ... | ix | ||
| Genetics of Multiple Endocrine Neoplasia Type 1/Multiple Endocrine Neoplasia Type 2 Syndromes | x | ||
| Clinical Implications for Germline PTEN Spectrum Disorders | x | ||
| Genetics of Disorders of Sex Development: The DSD-TRN Experience | x | ||
| Genetics of Lipodystrophy | xi | ||
| ENDOCRINOLOGY AND\rMETABOLISM CLINICS OF\rNORTH AMERICA\r | xii | ||
| FORTHCOMING ISSUES | xii | ||
| September 2017 | xii | ||
| December 2017 | xii | ||
| RECENT ISSUES | xii | ||
| March 2017 | xii | ||
| December 2016 | xii | ||
| September 2016 | xii | ||
| Foreword: Updates in the Genetics of Endocrine Disorders\r | xiii | ||
| Preface:\rGenetics and the New (Precision) Medicine and Endocrinology: In Medias Res or Ab Initio? | xv | ||
| Pituitary Hypoplasia | 247 | ||
| Key points | 247 | ||
| INTRODUCTION AND CLINICAL PRESENTATION OF HORMONE DEFICIENCIES | 247 | ||
| HOMEOBOX EXPRESSED IN ES CELLS 1 | 249 | ||
| LHX3/LHX4 | 250 | ||
| PROPHET OF PIT1 | 251 | ||
| POU1F1 (PIT1) | 252 | ||
| ORTHODENTICLE HOMEOBOX 2 | 253 | ||
| FUTURE CONSIDERATIONS/SUMMARY | 253 | ||
| REFERENCES | 253 | ||
| Genetics of Short Stature | 259 | ||
| Key points | 259 | ||
| INTRODUCTION | 259 | ||
| GENETICS OF SHORT STATURE | 261 | ||
| Defects in Intracellular Pathways | 261 | ||
| Intracellular signaling pathways | 261 | ||
| Transcriptional regulation | 270 | ||
| DNA repair | 271 | ||
| Other fundamental cellular processes | 271 | ||
| Defects in Cartilage Extracellular Matrix Defect | 271 | ||
| Abnormal Paracrine Signaling | 272 | ||
| Abnormal Hormone, Receptor, or Signaling Pathway | 272 | ||
| MUTATIONS IN THE SAME GENE MAY CAUSE A WIDE PHENOTYPIC SPECTRUM | 273 | ||
| SUMMARY AND FUTURE CONSIDERATIONS | 273 | ||
| REFERENCES | 273 | ||
| Molecular and Genetic Aspects of Congenital Isolated Hypogonadotropic Hypogonadism | 283 | ||
| Key points | 283 | ||
| INTRODUCTION | 283 | ||
| GENES IMPLICATED WITH DEVELOPMENT AND MIGRATION OF GONADOTROPIN-RELEASING HORMONE NEURONS | 284 | ||
| KAL1 or ANOS1 | 284 | ||
| Fibroblast Growth Factors Family and Modulators | 289 | ||
| Nasal Embryonic Luteinizing Hormone-Releasing Hormone Factor | 290 | ||
| Prokineticin 2 and Prokineticin Receptor 2 | 290 | ||
| WDR11 | 290 | ||
| Chromodomain-Helicase DNA-Binding Protein 7 | 291 | ||
| Semaphorins 7A and 3A | 291 | ||
| Sex determining region Y-Box 10 | 291 | ||
| FEZ family zinc finger 1 and CCDC141 | 292 | ||
| AXL | 292 | ||
| Immunoglobulin Superfamily Member 10 | 292 | ||
| GENES IMPLICATED WITH GONADOTROPIN-RELEASING HORMONE SYNTHESIS AND SECRETION | 293 | ||
| Gonadotropin-Releasing Hormone 1 | 293 | ||
| Kisspeptin 1 and Kisspeptin 1 Receptor | 293 | ||
| Tachykinin 3 and Tachykinin 3 receptor | 293 | ||
| Gonadotropin-Releasing Hormone Receptor | 294 | ||
| HYPOGONADOTROPIC HYPOGONADISM ASSOCIATED WITH OTHER SYNDROMES | 294 | ||
| Leptin, Leptin Receptor, and PCSK1 | 294 | ||
| OTUD4/RNF216/PNPLA6 | 295 | ||
| DMXL2 | 295 | ||
| NR0B1 | 295 | ||
| Homeobox Gene Expressed in Embryonic Stem Cells 1 | 296 | ||
| REVERSAL OF HYPOGONADISM | 296 | ||
| OLIGOGENIC INHERITANCE | 296 | ||
| SUMMARY | 297 | ||
| REFERENCES | 297 | ||
| Genetics of Diabetes Insipidus | 305 | ||
| Key points | 305 | ||
| INTRODUCTION | 305 | ||
| THE POSTERIOR PITUITARY-DISTAL TUBULE AXIS: ARGININE VASOPRESSIN PRODUCTION, RELEASE, AND MECHANISMS OF ACTION | 306 | ||
| DIAGNOSIS | 307 | ||
| FAMILIAL NEUROHYPOPHYSEAL DIABETES INSIPIDUS | 309 | ||
| Arginine Vasopressin Mutations Causing Familial Neurohypophyseal Diabetes Insipidus | 310 | ||
| Autosomal dominant familial neurohypophyseal diabetes insipidus due to arginine vasopressin mutations | 310 | ||
| Autosomal recessive familial neurohypophyseal diabetes insipidus due to arginine vasopressin mutations | 310 | ||
| Neurohypophyseal Diabetes Insipidus Due to WFS1 Mutations | 313 | ||
| Proprotein Convertase Subtilisin/Kexin Type 1 and Fibroblast Growth Factor 8 — Potential Roles in Diabetes Insipidus | 314 | ||
| X-linked Familial Neurohypophyseal Diabetes Insipidus | 314 | ||
| NEPHROGENIC DIABETES INSIPIDUS | 314 | ||
| X-linked Nephrogenic Diabetes Insipidus | 314 | ||
| Aquaporin 2 Mutations in Nephrogenic Diabetes Insipidus | 316 | ||
| Autosomal recessive nephrogenic diabetes insipidus | 316 | ||
| Autosomal dominant nephrogenic diabetes insipidus | 316 | ||
| SUMMARY | 322 | ||
| REFERENCES | 322 | ||
| Genetic Aspects of Pituitary Adenomas | 335 | ||
| Key points | 335 | ||
| INTRODUCTION | 335 | ||
| SPORADIC PITUITARY ADENOMAS | 337 | ||
| Mutational Events | 337 | ||
| Gene Expression Changes | 338 | ||
| FAMILIAL PITUITARY ADENOMAS | 340 | ||
| Familial Isolated Pituitary Adenomas | 340 | ||
| AIP Mutation-Positive Patients | 341 | ||
| Genetic and Molecular Aspects | 341 | ||
| Clinical Aspects | 343 | ||
| AIP Mutation-Negative FIPA Patients | 344 | ||
| X-linked Acrogigantism Syndrome | 344 | ||
| Genetic and Molecular Aspects | 346 | ||
| Clinical Aspects | 347 | ||
| MULTIPLE ENDOCRINE NEOPLASIA TYPE 1 SYNDROME | 349 | ||
| Genetic and Molecular Aspects | 349 | ||
| Clinical Aspects | 351 | ||
| MULTIPLE ENDOCRINE NEOPLASIA TYPE 4 SYNDROME | 352 | ||
| Defects of Thyroid Hormone Synthesis and Action | 375 | ||
| Key points | 375 | ||
| INTRODUCTION | 375 | ||
| Agoitrous Congenital Hypothyroidism: Defects in Thyroid Development | 377 | ||
| Thyroid-stimulating hormone receptor gene | 378 | ||
| Paired Box Gene 8 gene | 378 | ||
| TTF1 gene | 379 | ||
| FOXE1 gene | 379 | ||
| NKX2-5 gene | 379 | ||
| Goitrous Congenital Hypothyroidism: Defects in Thyroid Hormone Synthesis (Dyshormonogenesis) | 379 | ||
| Sodium iodine symporter, SLC5A5: defect in iodine uptake | 379 | ||
| Pendred syndrome, SLC26A4: defects in iodine efflux | 380 | ||
| Thyroglobulin: defects in the follicular matrix protein providing tyrosyl groups for iodine organification | 381 | ||
| Thyroid peroxidase: defect in the enzyme catalyzing iodide organification | 381 | ||
| DUOX2: defects in the nicotinamide adenine dinucleotide phosphate–oxidase providing hydrogen peroxidase for thyroid peroxidase | 381 | ||
| DUOXA2: defect in the DUOX2 cofactor | 382 | ||
| Iodotyrosine dehydrogenase: defects in iodine recycling | 382 | ||
| Defects in Thyroid Hormone Action | 382 | ||
| Thyroid hormone cell transport defects: monocarboxylate transporter 8 | 382 | ||
| Thyroid hormone metabolism abnormalities: selenocysteine-binding protein 2 | 383 | ||
| Defect in thyroid hormone action: thyroid hormone receptor beta, and alpha and non– thyroid hormone receptor–resistance to ... | 383 | ||
| ACKNOWLEDGMENTS | 384 | ||
| REFERENCES | 384 | ||
| Molecular Genetics of Thyroid Cancer in Children and Adolescents | 389 | ||
| Key points | 389 | ||
| INTRODUCTION | 389 | ||
| DIFFERENTIATED THYROID CARCINOMA | 390 | ||
| GENETIC MUTATIONS AND REARRANGEMENTS OF ONCOGENES | 390 | ||
| BRAF | 392 | ||
| Rearranged During Transfection-Papillary Thyroid Carcinoma | 392 | ||
| RAS | 394 | ||
| ADDITIONAL ONCOGENIC VARIANTS | 394 | ||
| POTENTIAL APPLICATION OF ONCOGENE DATA INTO CLINICAL PRACTICE | 395 | ||
| RADIATION-INDUCED THYROID CANCERS | 396 | ||
| INHERITED CANCER SYNDROMES | 396 | ||
| ADDITIONAL GENOMIC ASSAYS | 398 | ||
| SUMMARY | 398 | ||
| REFERENCES | 398 | ||
| Genetics of Hyperparathyroidism, Including Parathyroid Cancer | 405 | ||
| Key points | 405 | ||
| INTRODUCTION | 405 | ||
| PATHOPHYSIOLOGY OF PRIMARY HYPERPARATHYROIDISM | 407 | ||
| KNUDSON’S 2-HIT HYPOTHESIS AND TUMOR SUPPRESSOR GENES | 407 | ||
| CLINICAL FEATURES AND GENETICS OF MULTIPLE ENDOCRINE NEOPLASIA TYPE 1 | 408 | ||
| CLINICAL FEATURES AND GENETICS OF THE HYPERPARATHYROIDISM–JAW TUMOR SYNDROME | 409 | ||
| CLINICAL FEATURES AND GENETICS OF MULTIPLE ENDOCRINE NEOPLASIA TYPE 4 | 409 | ||
| CLINICAL FEATURES AND GENETICS OF FAMILIAL ISOLATED HYPERPARATHYROIDISM | 410 | ||
| CLINICAL FEATURES AND GENETICS OF FAMILIAL HYPOCALCIURIC HYPERCALCEMIA | 410 | ||
| ONCOGENES AND PROTO-ONCOGENES | 411 | ||
| CLINICAL FEATURES AND GENETICS OF MULTIPLE ENDOCRINE NEOPLASIA TYPE 2A | 411 | ||
| ONCOGENE IN THE PATHOPHYSIOLOGY OF PARATHYROID TUMORS | 411 | ||
| THE ROLE OF OTHER ONCOGENES IN THE PATHOPHYSIOLOGY OF PARATHYROID TUMORS | 412 | ||
| FUTURE CONSIDERATIONS | 412 | ||
| ACKNOWLEDGMENTS | 413 | ||
| REFERENCES | 413 | ||
| Genetics of Adrenocortical Development and Tumors | 419 | ||
| Key points | 419 | ||
| INTRODUCTION | 419 | ||
| OVERVIEW OF ADRENOCORTICAL DEVELOPMENT | 420 | ||
| ADRENOCORTICAL TUMORS: OVERVIEW OF GENETIC BASIS | 421 | ||
| INSULIN-LIKE GROWTH FACTOR SIGNALING PATHWAY | 423 | ||
| WNT SIGNALING PATHWAY | 423 | ||
| CELL CYCLE REGULATORS | 425 | ||
| CAMP-DEPENDENT PROTEIN KINASE PATHWAY | 426 | ||
| Genetics of Primary Bilateral Macronodular Adrenal Disease | 428 | ||
| Genetics of aldosterone producing adenomas | 428 | ||
| SUMMARY AND FUTURE CONSIDERATIONS | 428 | ||
| ACKNOWLEDGMENTS | 429 | ||
| REFERENCES | 429 | ||
| Genetics of Congenital Adrenal Hyperplasia | 435 | ||
| Key points | 435 | ||
| INTRODUCTION | 435 | ||
| GENETIC FORMS OF CONGENITAL ADRENAL HYPERPLASIA | 437 | ||
| 21-Hydroxylase Deficiency | 437 | ||
| Genotype-phenotype correlation | 439 | ||
| Congenital adrenal hyperplasia–tenascin-X syndrome | 442 | ||
| Population genetics and ethnic diversity of CYP21A2 genotypes | 443 | ||
| Molecular analysis of CYP21A2 mutations | 443 | ||
| 11β-Hydroxylase Deficiency | 445 | ||
| 17α-Hydroxylase Deficiency | 446 | ||
| 3β-Hydroxysteroid Dehydrogenase Type 2 Deficiency | 447 | ||
| P450 Oxidoreductase Deficiency | 447 | ||
| Lipoid Congenital Adrenal Hyperplasia | 448 | ||
| Cholesterol Side-Chain Cleavage Enzyme Deficiency | 448 | ||
| GENETIC COUNSELING OF PATIENTS WITH CONGENITAL ADRENAL HYPERPLASIA | 448 | ||
| PRENATAL DIAGNOSIS OF CONGENITAL ADRENAL HYPERPLASIA | 450 | ||
| FUTURE THERAPIES: GENE THERAPY AND STEM CELL TRANSPLANTATION | 450 | ||
| SUMMARY | 450 | ||
| List of Laboratories for Congenital Adrenal Hyperplasia Molecular Analysis in the United States | 451 | ||
| REFERENCES | 451 | ||
| Genetics of Pheochromocytomas and Paragangliomas | 459 | ||
| Key points | 459 | ||
| REVIEW OUTLINE | 459 | ||
| MUTATIONS IN MULTIPLE ENDOCRINE NEOPLASIA TYPE 2–LIKE PATIENTS AND PATIENTS WITH PHEOCHROMOCYTOMAS AND PARAGANGLIOMA | 460 | ||
| MERTK Mutations in Human Disorders | 464 | ||
| Remarks of MERTK in Pheochromocytomas and Paragangliomas | 465 | ||
| FIBROBLAST GROWTH FACTOR RECEPTOR 1 SOMATIC MUTATION IN PHEOCHROMOCYTOMAS AND PARAGANGLIOMAS | 465 | ||
| Fibroblast Growth Factor Receptor 1 Mutations in Human Disorders | 470 | ||
| Remarks of Fibroblast Growth Factor Receptor 1 in Pheochromocytomas and Paragangliomas | 470 | ||
| SYNDROME | 471 | ||
| H3F3A and Mounting Evidence of Involvement of MYC in Pheochromocytomas and Paragangliomas | 471 | ||
| H3F3A Mutations in Human Disorders | 472 | ||
| MUTATIONS IN PATIENTS WITH PHEOCHROMOCYTOMAS AND PARAGANGLIOMAS | 472 | ||
| IN PHEOCHROMOCYTOMAS AND PARAGANGLIOMAS | 485 | ||
| DIAGNOSTIC EXOME SEQUENCING | 485 | ||
| REFERENCES | 486 | ||
| Genetics of Multiple Endocrine Neoplasia Type 1/Multiple Endocrine Neoplasia Type 2 Syndromes | 491 | ||
| Key points | 491 | ||
| INTRODUCTION | 491 | ||
| A HISTORICAL PERSPECTIVE | 492 | ||
| EVOLUTION OF GENETICS TESTING FOR MEN1 AND MEN2 | 492 | ||
| INTERPRETING GENETIC TEST RESULTS | 495 | ||
| THE POSITIVE TEST RESULT | 495 | ||
| THE NEGATIVE TEST RESULT | 497 | ||
| THE INCONCLUSIVE RESULT, OR VARIANT OF UNCERTAIN SIGNIFICANCE | 498 | ||
| SUMMARY | 500 | ||
| REFERENCES | 500 | ||
| Clinical Implications for Germline PTEN Spectrum Disorders | 503 | ||
| Key points | 503 | ||
| INTRODUCTION | 503 | ||
| MOLECULAR GENETICS | 505 | ||
| CANCER CLINICAL FEATURES | 507 | ||
| Breast | 508 | ||
| Thyroid | 509 | ||
| Gastrointestinal Tract | 509 | ||
| Endometrial | 510 | ||
| Renal | 510 | ||
| NONCANCER CLINICAL FEATURES | 510 | ||
| Neurologic | 510 | ||
| Metabolic, Immunologic, and Others | 511 | ||
| IDENTIFYING PATIENTS FOR GENETICS RISK ASSESSMENT | 511 | ||
| SURVEILLANCE AND MANAGEMENT OF COWDEN SYNDROME | 512 | ||
| FUTURE CONSIDERATIONS AND SUMMARY | 513 | ||
| ACKNOWLEDGMENTS | 514 | ||
| REFERENCES | 514 | ||
| Genetics of Disorders of Sex Development | 519 | ||
| Key points | 519 | ||
| DISORDERS OF SEX DEVELOPMENT PHENOTYPIC AND GENOTYPIC SPECTRUM | 520 | ||
| IMPROVE AND ACCELERATE THE PATH TO AN ACCURATE DIAGNOSIS FOR DISORDERS OF SEX DEVELOPMENT | 526 | ||
| GENOMIC SEQUENCING AS A PRIMARY DIAGNOSTIC TOOL FOR DISORDERS OF SEX DEVELOPMENT | 526 | ||
| DISORDERS OF SEX DEVELOPMENT TRANSLATIONAL RESEARCH NETWORK RECOMMENDATIONS FOR DISORDERS OF SEX DEVELOPMENT GENOMIC TESTING | 527 | ||
| STANDARDIZED DEEP PHENOTYPING IN DISORDERS OF SEX DEVELOPMENT TRANSLATIONAL RESEARCH NETWORK PRACTICE | 528 | ||
| STANDARDIZATION OF DIAGNOSTIC PROCESS AND GENETIC PRACTICE REPORTING | 528 | ||
| Documentation of Family History | 529 | ||
| Documentation of Genetic Testing and Diagnosis | 529 | ||
| Documentation of Genetic Practice | 529 | ||
| PRELIMINARY DISORDERS OF SEX DEVELOPMENT TRANSLATIONAL RESEARCH NETWORK REGISTRY FINDINGS | 530 | ||
| Diagnostic Effort by the Disorders of Sex Development Translational Research Network Team Increased the Percentage of Patie ... | 530 | ||
| The Conditions of 6% of Probands Reported in the Disorders of Sex Development Translational Research Network Registry are F ... | 531 | ||
| Frequency of Specific Genetic Diagnoses in the Disorders of Sex Development Translational Research Network Registry | 531 | ||
| Efficacy and Completion of the Diagnostic Process | 532 | ||
| Chromosomal microarrays | 532 | ||
| Single gene testing | 533 | ||
| Exome sequencing | 533 | ||
| Completion of genetic diagnostic process | 533 | ||
| SUMMARY | 534 | ||
| ACKNOWLEDGMENTS | 534 | ||
| SUPPLEMENTARY DATA | 535 | ||
| REFERENCES | 535 | ||
| Genetics of Lipodystrophy | 539 | ||
| Key points | 539 | ||
| BACKGROUND | 539 | ||
| Congenital Generalized Lipodystrophy | 542 | ||
| Congenital generalized lipodystrophy type 1 | 542 | ||
| Genetics | 542 | ||
| Phenotype | 542 | ||
| Index | 555 |