Genetics Of Endocrine Disorders An Issue Of Endocrinology And Metabolism Clinics Of North America E Book

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.

This issue of Endocrinology and Metabolism Clinics, Guest Edited by Dr. Mark E. Molitch, will focus on Pregnancy and Endocrine Disorders. Topics include, but are not limited to, Gestational Diabetes Mellitus, Type 1 Diabetes Mellitus, Type 2 Diabetes Mellitus, Hyperthyroidism, Hypothyroidism, Thyroid Nodules, Thyroid Cancer, Thyroiditis, Pituitary Tumors, Pheochromocytoma, Congenital adrenal hyperplasia, Adrenal Insufficiency, and Calcium/Vitamin D Disorders.

This issue of Endocrinology and Metabolism Clinics will cover Pediatric Endocrinology. Curated by Dr. Andrea Kelly, this issue will explore topics in the field that are relevant for practicing clinicians. This issue is one of four selected each year by the series Consulting Editor, Adriana G. Ioachimescu. The volume will include articles on: Endocrine Sequelae in Childhood Cancer Survivors, Bone Health in Childhood Chronic Disease, Advances in Bone Health Assessment, Inhaled Glucocorticoids and Endocrine Outcomes, Atypical DM (mitochondrial, transplant, CFRD, monogenic), Pediatric Thyroid Cancer (outcomes, genetics, therapeutics), New Technologies in Type 1 diabetes (bionic pancreas, insulin, mobile health), Precocious and Delayed Puberty—Genetic Underpinnings and treatments (various GNRH formulations, implant), Pediatric Type 2 diabetes, Adolescent health outcomes in relation to phthalates.

Hypercalcemia, An Issue of Endocrinology and Metabolism Clinics of North America,E-Book

This issue of Endocrinology and Metabolism Clinics provides essential updates across the spectrum of pediatric endocrinology. Topics covered include Prevention of type 1 and type 2 diabetes mellitus; genetics of growth; diagnosis in prepubescent girls; Turner and Noonan Syndromes; thyroid function in Down Syndrome; chronic disease; effects of ADHD treatment on growth; Vitamin D and bone health; use of statins; and obesity prevention.

Genetic Diagnosis of Endocrine Disorders, Second Edition provides users with a comprehensive reference that is organized by endocrine grouping (i.e., thyroid, pancreas, parathyroid, pituitary, adrenal, and reproductive and bone), discussing the genetic and molecular basis for the diagnosis of various disorders. The book emphasizes the practical nature of diagnosing a disease, including which tests should be done for the diagnosis of diabetes mellitus in adults and children, which genes should be evaluated for subjects with congenital hypothyroidism, which genetic tests should be ordered in obese patients or for those with parathyroid carcinoma, and the rationale behind testing for multiple endocrine neoplasias. Offers a clear presentations of pharmacogenetics and the actual assays used in detecting endocrine diseases Teaches the essentials of the genetic basis of disease in each major endocrine organ system Offers expert advice from genetic counselors on how to use genetic information in counseling patients Includes new chapters on the genetics of lipid disorders and glycogen storage diseases, genetics of hypoglycemia, and whole genome/exome sequencing

This book provides a comprehensive overview of the genetic basis underlying endocrine diseases. It covers both the molecular and clinical consequences of these genetic defects, as well as the relevance for clinical care, highlighting issues of genetic counseling. Several endocrine diseases have a genetic background, and contemporary research in the field plays a crucial role in the clinical care of endocrine diseases. In recent years, there have been major developments in our understanding of the genetic basis of endocrine diseases. Several novel genes and mutations predisposing individuals to monogenic endocrine diseases have been discovered, and with the advent of next generation sequencing, a huge amount of new data has become available. Further, novel molecular mechanisms, such as genomic imprinting, have been implicated in the pathogenesis of endocrine diseases. A better understanding of the genetic background of these diseases is relevant not only from the research perspective, but also in terms of clinical care. As such, this book is an essential read for both researchers and clinicians working in the field.

This text was conceived as a tool to address the problems encountered by an endocrinologist when sureveying the wealth of information available from the past two decades of genetic research. The ability to pinpoint genetic defects responsible for a specific endocrine disorder opens the possibility of faster and simpler diagnosis, improved understanding of disease mechanisms, and development of new treatment modalities. However, the abundance of information attained may be so overwhelming that the practicing physician may be unable to apply this knowledge to the daily routine of clinical practice.