Recent Advances In Diagnosis And Treatment Of Congenital Adrenal Hyperplasia Due To 21 Hydroxylase Deficiency
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Recent Advances In Diagnosis And Treatment Of Congenital Adrenal Hyperplasia Due To 21 Hydroxylase Deficiency
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Author : Serkan Yener
language : en
Publisher: Frontiers Media SA
Release Date : 2023-12-13
Recent Advances In Diagnosis And Treatment Of Congenital Adrenal Hyperplasia Due To 21 Hydroxylase Deficiency written by Serkan Yener and has been published by Frontiers Media SA this book supported file pdf, txt, epub, kindle and other format this book has been release on 2023-12-13 with Medical categories.
Genetic Steroid Disorders
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Author : Maria I. New
language : en
Publisher: Elsevier Inc. Chapters
Release Date : 2013-08-22
Genetic Steroid Disorders written by Maria I. New and has been published by Elsevier Inc. Chapters this book supported file pdf, txt, epub, kindle and other format this book has been release on 2013-08-22 with Medical categories.
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.
Congenital Adrenal Hyperplasia
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Author : Maria I. New
language : en
Publisher: Springer
Release Date : 1984
Congenital Adrenal Hyperplasia written by Maria I. New and has been published by Springer this book supported file pdf, txt, epub, kindle and other format this book has been release on 1984 with Medical categories.
Genetic Steroid Disorders
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Author : Maria I. New
language : en
Publisher: Academic Press
Release Date : 2023-06-14
Genetic Steroid Disorders written by Maria I. New and has been published by Academic Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2023-06-14 with Science categories.
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
Genetic Steroid Disorders
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Author : Maria I. New
language : en
Publisher: Academic Press
Release Date : 2013-08-22
Genetic Steroid Disorders written by Maria I. New and has been published by Academic Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2013-08-22 with Science categories.
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
Pediatric Endocrinology An Issue Of Endocrinology And Metabolism Clinics Of North America E Book
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Author : Robert Rapaport
language : en
Publisher: Elsevier Health Sciences
Release Date : 2016-06-11
Pediatric Endocrinology An Issue Of Endocrinology And Metabolism Clinics Of North America E Book written by Robert Rapaport and has been published by Elsevier Health Sciences this book supported file pdf, txt, epub, kindle and other format this book has been release on 2016-06-11 with Medical categories.
This issue of Endocrinology and Metabolism Clinics, edited by Dr. Robert Rapaport, is devoted to Pediatric Endocrinology. Articles in this issue include: Thyroid Cancer in Pediatrics; Gender and Sex Assignment; CAH Prenatal Diagnosis; Diabetes; Polycystic Ovarian Disease; Newborn Screening for X-linked ALD; Growth in Patients w/ Skeletal Dysplasia; Thyroid Imaging in Infants; Bariatric Surgery in Youth; Pituitary Imaging in Pediatrics; and Cardiac and Metabolic Features of GH Deficiency.
Androgenic Disorders
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Author : Geoffrey P. Redmond
language : en
Publisher: Raven Press (ID)
Release Date : 1995
Androgenic Disorders written by Geoffrey P. Redmond and has been published by Raven Press (ID) this book supported file pdf, txt, epub, kindle and other format this book has been release on 1995 with Health & Fitness categories.
Androgens In Gynecological Practice
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Author : Leo Plouffe (Jr.)
language : en
Publisher: Cambridge University Press
Release Date : 2015-06-25
Androgens In Gynecological Practice written by Leo Plouffe (Jr.) and has been published by Cambridge University Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2015-06-25 with Medical categories.
A practical approach to the field of androgen excess or deprivation in women's health. The content includes multiple viewpoints on the most common disorders in this class, such as polycystic ovary disease, hirsutism and menopausal issues. Each chapter provides a combination of long-lasting clinical principles in the diagnosis and management of these patients along with a state-of-the-art review. This text takes an innovative approach to uncommon conditions (such as congenital adrenal hyperplasia, transgender conditions). In addition to presenting clinical insights, and a review of the basic science underpinning these conditions, it focuses on key concepts that can be derived from these rare conditions to the entire field. This book is an essential addition to the library for any busy clinician who is looking for a practical reference guide but also for the sub-specialist who is looking for new and thought-provoking insights in this complex scientific area.
Campbell Walsh Urology
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Author : Alan J. Wein
language : en
Publisher: Elsevier Health Sciences
Release Date : 2011-09-28
Campbell Walsh Urology written by Alan J. Wein and has been published by Elsevier Health Sciences this book supported file pdf, txt, epub, kindle and other format this book has been release on 2011-09-28 with Medical categories.
Since 1954, Campbell-Walsh Urology has been internationally recognized as the pre-eminent text in its field. Edited by Alan J. Wein, MD, PhD(hon), Louis R. Kavoussi, MD, Alan W. Partin, MD, PhD, Craig A. Peters, MD, FACS, FAAP, and the late Andrew C. Novick, MD, it provides you with everything you need to know at every stage of your career, covering the entire breadth and depth of urology - from anatomy and physiology through the latest diagnostic approaches and medical and surgical treatments. Consult this title on your favorite e-reader with intuitive search tools and adjustable font sizes. Elsevier eBooks provide instant portable access to your entire library, no matter what device you're using or where you're located. Be certain with expert, dependable, accurate answers for every stage of your career from the most comprehensive, definitive text in the field! Required reading for all urology residents, Campbell-Walsh Urology is the predominant reference used by The American Board of Urology for its board examination questions. Visually grasp and better understand critical information with the aid of algorithms, photographs, radiographs, and line drawings to illustrate essential concepts, nuances of clinical presentation and technique, and decision making. Stay on the cutting edge with online updates. Get trusted perspectives and insights from hundreds of well-respected global contributors, all of whom are at the top and the cutting edge of their respective fields. Stay current with the latest knowledge and practices. Brand-new chapters and comprehensive updates throughout include new information on perioperative care in adults and children, premature ejaculation, retroperitoneal tumors, nocturia, and more! Meticulously revised chapters cover the most recent advancements in robotic and laparoscopic bladder surgery, open surgery of the kidney, management of metastic and invasive bladder cancer, and many other hot topics! Reference information quickly thanks to a new, streamlined print format and easily searchable online access to supplemental figures, tables, additional references, and expanded discussions as well as procedural videos and more at www.expertconsult.com.
Pediatric Gynecology
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Author : Ahmed H. Al-Salem
language : en
Publisher: Springer Nature
Release Date : 2020-09-29
Pediatric Gynecology written by Ahmed H. Al-Salem and has been published by Springer Nature this book supported file pdf, txt, epub, kindle and other format this book has been release on 2020-09-29 with Medical categories.
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.