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Recent Advances In Diagnosis And Treatment Of Congenital Adrenal Hyperplasia Due To 21 Hydroxylase Deficiency
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Book Synopsis Recent advances in diagnosis and treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency by : Serkan Yener
Download or read book Recent advances in diagnosis and treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency written by Serkan Yener and published by Frontiers Media SA. This book was released on 2023-12-13 with total page 112 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis Genetic Steroid Disorders by : Maria I. New
Download or read book Genetic Steroid Disorders written by Maria I. New and published by Academic Press. This book was released on 2023-06-14 with total page 470 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genetic Steroid Disorders, Second Edition targets adult and pediatric endocrinologists, clinical geneticists, genetic counselors, reproductive endocrinologists, neonatologists, urologists, and psychoendocrinologists. It is designed to assist these specialists in the diagnosis and treatment of steroid disorders. This revision includes a new chapter on "Gonadotropins, Obesity and Bone" and new research on non-invasive prenatal diagnosis with cell-free DNA. Chapters are thoroughly updated covering steroid disorders, the genetic bases for the disorder and case presentations, This definitive reference belongs in every medical library! Presents a comprehensive, translational look at all aspects of genetic steroid disorders in one reference work Provides a common language for endocrinologists, geneticists, molecular pathologists, and genetic counselors to discuss and diagnose genetic steroid disorders Saves clinicians and researchers time in quickly accessing the very latest details on genetic tests and diagnoses as opposed to searching through thousands of journal articles Highlights significant discoveries with clinical relevance, presenting insight into which medications to use based on the genetic makeup of a patient Teaches the best strategies and most effective use of genetic information in the patient counseling setting
Book Synopsis Genetic Steroid Disorders by : Maria I. New
Download or read book Genetic Steroid Disorders written by Maria I. New and published by Elsevier Inc. Chapters. This book was released on 2013-08-22 with total page 406 pages. Available in PDF, EPUB and Kindle. Book excerpt: Congenital adrenal hyperplasia (CAH) refers to a group of autosomal recessive genetic disorders that arise from defective steroidogenesis. The 21-hydroxylase deficiency (21OHD) is the most common form of CAH, accounting for more than 90% of cases. It is the most common disorder of sexual development (DSD) in females. The gene is encoded by CYP21A2, which is located on the short arm of chromosome 6 (6p21.3). The activity of the enzyme 21-hydroxylase, encoded by the CYP21A2 gene, is deficient, leading to an accumulation of 17-hydroxyprogesterone (17-OHP) and subsequent elevation of androgens. The three forms of 21OHD are the salt-wasting form, simple-virilizing form, and non-classical form. The first two forms are classical forms of the disease where the hallmark finding is ambiguity of the genitalia in affected female newborns. Patients with the non-classical form have normal genitalia, yet may present with signs of early sexual development and other symptoms of hyperandrogenemia such as short stature, hirsutism, acne, and impaired fertility. Hormonal testing is important in making the diagnosis of 21-hydroxylase deficiency, yet genetic testing is crucial to secure the diagnosis. More than 100 mutations have been identified caused by gene conversions, large scale gene deletions, and de novo mutations, and novel mutations are continuously being identified. Genotype–phenotype non-concordance is observed in a significant number of patients.
Book Synopsis Androgenic Disorders by : Geoffrey P. Redmond
Download or read book Androgenic Disorders written by Geoffrey P. Redmond and published by Raven Press (ID). This book was released on 1995 with total page 376 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis Fertility and Reproductive Outcomes in Different Forms of Congenital Adrenal Hyperplasia by : M. Eda Ertorer
Download or read book Fertility and Reproductive Outcomes in Different Forms of Congenital Adrenal Hyperplasia written by M. Eda Ertorer and published by Springer Nature. This book was released on 2021-09-28 with total page 157 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book covers all forms of Congenital Adrenal Hyperplasia (CAH) and provides a comprehensive overview of accompanying reproductive problems. Affected individuals may exhibit low fecundability, infertility, recurrent miscarriages, painful sexual intercourse, sexual orientation changes, etc. If not diagnosed and treated properly, their children may also experience developmental disorders of the external genitalia. Depending on the defects in enzymes, severity of the mutations and residual enzymatic activities, the clinical presentation may differ from patient to patient. As these disorders are encountered relatively rarely, many cases are either undiagnosed or inappropriately treated. Given its scope, this book offers a valuable guide for gynecologists, endocrinologists, pediatricians, and professionals in reproductive medicine, as well as GPs, practicing physicians, medical students and residents.
Book Synopsis Pediatric Gynecology by : Ahmed H. Al-Salem
Download or read book Pediatric Gynecology written by Ahmed H. Al-Salem and published by Springer Nature. This book was released on 2020-09-29 with total page 482 pages. Available in PDF, EPUB and Kindle. Book excerpt: This richly-illustrated book is a reader-friendly reference guide on pediatric gynecology covering both congenital and acquired conditions. Discussing a broad range of conditions from ovarian cysts and endometriosis to disorders of sexual development and breast disorders, this book presents the topics in a concise manner using a practical approach. Each chapter is divided into sections that cover all aspects of the topic including radiology, surgery and clinical aspects and the text is accompanied by ample images.The book will be of use to general surgeons, pediatricians, pediatric surgeons, pediatric endocrinologists, pediatric urologists, obstetricians and gynaecologists.
Book Synopsis Advanced Practice in Endocrinology Nursing by : Sofia Llahana
Download or read book Advanced Practice in Endocrinology Nursing written by Sofia Llahana and published by Springer. This book was released on 2019-02-26 with total page 1337 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides a comprehensive guide for nurses practicing in any area of endocrinology and at any level of expertise. Endocrinology Nursing is a fast-developing specialty with nurses performing advanced roles and expanding their practice to run independent nurse-led services. Supported by the European Society of Endocrinology (ESE) and edited by members of the ESE Nurses Working Group, this is the first book ever published specifically for endocrine nurses. It is also an excellent resource for endocrinology specialty trainees, general practitioners, medical and nursing students, expert patients and nurses working in specialties such as fertility, osteoporosis, oncology, obesity, urology and gynaecology, who look after patients with endocrine-related disorders. This volume includes 13 sections and 69 chapters providing a comprehensive overview of adult and paediatric endocrinology but also a section on advanced practice, role development and nursing research. It has been written by an international team of more than 100 eminent nurses, physicians, surgeons, psychologists and other healthcare professionals, which makes this book a valuable resource for any multidisciplinary team. Many patient advocacy groups have contributed with case studies which emphasises the close working relationships with patients.
Book Synopsis Advances in Neuroendocrinology by : Andrew Vladimir Nalbandov
Download or read book Advances in Neuroendocrinology written by Andrew Vladimir Nalbandov and published by . This book was released on 1963 with total page 548 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis Clinical Gynecology by : Eric J. Bieber
Download or read book Clinical Gynecology written by Eric J. Bieber and published by Cambridge University Press. This book was released on 2015-04-23 with total page 1127 pages. Available in PDF, EPUB and Kindle. Book excerpt: Written with the busy practice in mind, this book delivers clinically focused, evidence-based gynecology guidance in a quick-reference format. It explores etiology, screening, tests, diagnosis, and treatment for a full range of gynecologic health issues. The coverage includes the full range of gynecologic malignancies, reproductive endocrinology and infertility, infectious diseases, urogynecologic problems, gynecologic concerns in children and adolescents, and surgical interventions including minimally invasive surgical procedures. Information is easy to find and absorb owing to the extensive use of full-color diagrams, algorithms, and illustrations. The new edition has been expanded to include aspects of gynecology important in international and resource-poor settings.
Book Synopsis Genetic Diagnosis of Endocrine Disorders by : Roy E. Weiss
Download or read book Genetic Diagnosis of Endocrine Disorders written by Roy E. Weiss and published by Academic Press. This book was released on 2015-10-09 with total page 472 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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
Book Synopsis Disorders of Sex Development by : John M. Hutson
Download or read book Disorders of Sex Development written by John M. Hutson and published by Springer Science & Business Media. This book was released on 2012-01-14 with total page 311 pages. Available in PDF, EPUB and Kindle. Book excerpt: The rapid advances in medicine over the last 50 years have totally changed the outlook for children with disorders of sex development (DSD), but there is still much to learn. This book crystallizes the combined experience of a leading dedicated unit over 25 years in delivering expert medical and surgical care to children with DSD in a holistic environment. It documents the most recent advances in the molecular biology and embryology of sex development, and describes each disorder in detail. The clinical presentation and approach to diagnosis are described both for babies and for children presenting later in childhood or at adolescence. The chapters on management highlight all the latest knowledge and include the shared wisdom of the authors on current controversies, such as the timing of surgical treatment. Finally, the authors describe their short-, medium-, and long-term outcomes, which demonstrate the strengths of holistic team management.
Book Synopsis American Academy of Pediatrics Textbook of Pediatric Care by : Jane Meschan Foy
Download or read book American Academy of Pediatrics Textbook of Pediatric Care written by Jane Meschan Foy and published by . This book was released on 2016-03-31 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: The definitive manual of pediatric medicine - completely updated with 75 new chapters and e-book access.
Book Synopsis Cases in Pediatric Acute Care by : Andrea Kline-Tilford
Download or read book Cases in Pediatric Acute Care written by Andrea Kline-Tilford and published by John Wiley & Sons. This book was released on 2020-03-30 with total page 528 pages. Available in PDF, EPUB and Kindle. Book excerpt: Cases in Pediatric Acute Care presents over 100 real-world pediatric acute care cases, each including a brief patient history, a detailed history of present illness, presenting signs and symptoms, vital signs, and physical examination findings. Ideal for developing a systematic approach to diagnosis, evaluation, and treatment, this resource provides students and advanced practitioners with the tools required to deliver comprehensive care to acute, chronic and critically ill children. The cases encompass a wide range of body systems, medical scenarios, professional issues and general pediatric concerns, and feature laboratory data, radiographic images and information on case study progression and resolution. Develops the essential skills necessary to provide the best possible pediatric acute care Discusses the most appropriate differential diagnoses, diagnostic evaluation, and management plans for each case Presents cases related to pulmonary, cardiac, neurologic, endocrine, metabolic, musculoskeletal, and other body systems Highlights key points in each case to quickly identify critical information Cases in Pediatric Acute Care is an excellent resource for advanced practice provider students and pediatric healthcare providers managing acutely ill children.
Book Synopsis Developmental Endocrinology by : Erica A. Eugster
Download or read book Developmental Endocrinology written by Erica A. Eugster and published by Springer Science & Business Media. This book was released on 2002-03-04 with total page 721 pages. Available in PDF, EPUB and Kindle. Book excerpt: Leading researchers comprehensively translate all the latest scientific information regarding endocrine physiology and development into an understanding of the clinical pathogenesis, diagnosis, and treatment of endocrine disease. Organized by endocrine system, each section of the book concisely describes the chronological development of the human organism, from the fetal/prenatal period through childhood, adolescence, and in some cases, into adulthood. The prenatal sections review recent discoveries concerning transcription factors, homeobox genes, and human molecular mutations-the basic processes governing prenatal development of the individual endocrine organs-and detail the pathophysiology, clinical characteristics, and treatment of pediatric endocrine disorders.
Book Synopsis PG Textbook of Pediatrics by : Piyush Gupta
Download or read book PG Textbook of Pediatrics written by Piyush Gupta and published by JP Medical Ltd. This book was released on 2015-08-31 with total page 1124 pages. Available in PDF, EPUB and Kindle. Book excerpt: Postgraduate Textbook of Pediatrics is a comprehensive guide to paediatrics. The textbook is comprised of three volumes, split into ten parts with over 600 chapters, and contributions from over 50 section editors and 725 authors, covering all paediatric disorders, descriptions of diseases and their management. Includes nearly 1500 images and illustrations in full colour, incorporating information on modern imaging techniques for neurological disorders in children. This is an ideal resource for postgraduate students to gain a firm grounding in, and retain and improve their knowledge of all areas of paediatric medicine.
Book Synopsis Genetic Steroid Disorders by : Maria I. New
Download or read book Genetic Steroid Disorders written by Maria I. New and published by Academic Press. This book was released on 2013-08-22 with total page 406 pages. Available in PDF, EPUB and Kindle. Book excerpt: This is a comprehensive book addressing steroid disorders from hormonal, genetic, psychological, and surgical perspectives. It is meant to educate adult and pediatric endocrinologists, clinical geneticists, genetic counselors, reproductive endocrinologists, neonatologists, urologists, and psychoendocrinologists. It will assist these specialists in the diagnosis and treatment of steroid disorders. The book is written for postgraduate and faculty-level physicians. The content consists of steroid disorders, genetic bases for the disorder and case presentations of each disorder. Provides a common language for professionals to discuss and diagnose genetic steroid disorders Includes the very latest details on genetic tests and diagnoses Offers a strong understanding of the molecular basis for the diseases and therefore correct diagnosis and treatment of steroid disorders Presents insight into which medications to use based on the genetic makeup of a patient Teaches the best strategies and most effective use of genetic information in the patient counseling setting
Book Synopsis Human Reproductive and Prenatal Genetics by : Peter C.K. Leung
Download or read book Human Reproductive and Prenatal Genetics written by Peter C.K. Leung and published by Elsevier. This book was released on 2023-03-22 with total page 930 pages. Available in PDF, EPUB and Kindle. Book excerpt: Human Reproductive and Prenatal Genetics, Second Edition provides application-driven coverage of key topics in human reproductive and prenatal genetics, including genetic control underlying the development of the reproductive tracts and gametogenesis, the genetics of fertilization and implantation, the genetic basis of female and male infertility, as well as genetic and epigenetic aspects of assisted reproduction. Also examined are the genetics and epigenetics of the placenta in normal and abnormal pregnancy, preimplantation genetic diagnosis and screening, and cutting-edge advances in noninvasive prenatal screening, prenatal genetic counseling, and bioethical and medicolegal aspects of relevance in the lab and clinic. This new edition has been fully revised to address new and evolving technologies in human reproductive genetics, with new chapters added on chromatin landscapes and sex determination, genetic alterations of placental development and preeclampsia, metabolism and inflammation in PCOS, pre-implantational genetic testing, maternal genetic disorders, bioethics, and future applications. Features chapter contributions from leading international scientists and clinicians Provides in-depth coverage of key topics in human reproductive and prenatal genetics, including genetic controls, fertilization, placental development, embryo implantation, in vitro culture of the human embryo for the study of post-implantation development, and more Identifies how researchers and clinicians can implement the latest genetic, epigenetic, and –omics-based approaches Includes all new chapters on evolving technologies and recent genetic discoveries of relevance to reproductive medicine
