Congenital Adrenal Hyperplasia

Book Description :

Congenital Adrenal Hyperplasia: A Comprehensive Guide addresses how hydrocortisone works, what can go wrong, and how to correct it, also explaining why the timing of doses and measurement of cortisol from a dose is extremely important. The book provides an in-depth analysis of this disorder for pediatric endocrinologists and primary care providers, allowing them to help patients with an updated model of care and appropriate treatment. Patients and family members will benefit from the trend-forward information that will empower them to approach their healthcare providers with the expectation of receiving individualized care and treatment for this disorder. Outlines the basics of congenital adrenal hyperplasia and its interrelation with hormones and bodily functions Presents the known cognitive and emotional aspects of the disease Reviews multidisciplinary management as well as post-treatment management of the disease

Book Description :

Congenital Adrenal Hyperplasia: A Comprehensive Guide addresses how hydrocortisone works, what can go wrong, and how to correct it, also explaining why the timing of doses and measurement of cortisol from a dose is extremely important. The book provides an in-depth analysis of this disorder for pediatric endocrinologists and primary care providers, allowing them to help patients with an updated model of care and appropriate treatment. Patients and family members will benefit from the trend-forward information that will empower them to approach their healthcare providers with the expectation of receiving individualized care and treatment for this disorder.

Book Description :

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 Description :

You too can use your experience and passion for photography to capture those special moments that will last a lifetime. This step by step book is designed to help you make be successful by giving you clear and specific steps to take in order to start and manage your business successfully. Timelines, strategies, planning, and tips are all included to increase your success and decrease costly mistakes. You'll learn: How to get started with little or no money even while working full time. What software to use in order to effectively automate your office. The right pricing structure in order to quickly become profitable. How to create an effective Business Plan. Marketing and advertising insights and which methods are most effective. 10 tips to win deals over the competition. How to build your Portfolio in order to get your first deal. How to choose the right equipment and at a fraction of the cost. What photographs sell the best and what shots not to miss. 5 secrets to handling any customer service issue. Understand the 5 point sales process and how to effectively control them. Includes: MS Project plan and detailed tasks to keep you on track. Includes forms such as standard contract, model release, competitive analysis, pricing guides, sales projections and many more. A full sales toolkit including the 4 buying motivators.

Book Description :

This book provides a detailed account of intellectual, other neuropsychological and behavioral manifestations of general pediatric diseases. The conditions discussed include the whole range of pediatric diseases - genetic syndromes, other congenital conditions, metabolic, endocrine, gastrointestinal, infectious, immunologic, toxic, trauma, and neoplastic, as well as sensory disabilities including deafness and blindness. Although the book is not intended to discuss cognitive and behavioral manifestations of conditions usually considered to be primary neurological disease, some of those, including cerebral palsy, muscular dystrophy, myotonic dystrophy and epilepsy, are included. Where possible, a "translational" approach is used, linking the behavioral and cognitive manifestations of these conditions, to the underlying structural, chemical or genetic abnormalities and their effect on the brain, and, in turn, on behavior and cognition. At the same time, included are significant psychosocial factors. Together, those factors have a major effect on patients' performance, including school performance, and on their families. This book is unique in its extensive coverage of the major pediatric conditions and of the detailed neurological, neuropsychological and behavioral aspects of each condition.

Book Description :

Pediatricians face many questions and challenges during patients’ transition from childhood to adulthood. Chronic diseases justify long-term medical, psychological, educational, and social management. The establishment of networks with adult endocrinologists is, therefore, very important to achieving optimal conditions for a successful transition period. In this book, leading experts discuss major public health issues such as diabetes and obesity. They also review genetic diseases, including Turner syndrome and congenital adrenal hyperplasia. All clinical cases are presented in a focused way to highlight any issues which might be discussed by the doctor with patients and family. Psychological approaches are debated as are proposals for defining specific tools to encourage autonomy during this life period. This book is a valuable tool and will be helpful in answering many questions for endocrinologists, adult and pediatric, dedicated to the long-term management of patients with chronic diseases.

Book Description :

Tumors/cancers are characterized by uncontrolled growths of abnormal cells that extend beyond their usual boundaries and disrupt the normal functions of affected organs and systems. While about 75%–80% of tumors/cancers arise sporadically without a family connection, 20%–25% appear to be familial (including 10%–15% nonhereditary familial tumors [or familial tumors] and 5%–10% hereditary familial tumors [or hereditary tumors]). As nonhereditary and hereditary familial tumors often show both tumor-related and non-tumor-related (or syndromic) symptoms, they are referred to as tumor syndromes (or cancer susceptibility syndromes). In comparison with sporadic tumors/cancers, tumor syndromes (>300 described so far) tend to occur at a younger age, involve multiple organs and systems, produce multiple (often in a distinct spectrum) and bilateral lesions, form multiple hamartomatous, benign, or precursor lesions; locate in specific site(s), display unique syndromic features, and affect multiple members/generations of a family. This book provides state-of-art and authoritative coverage of nearly 100 tumor syndromes, with chapters presenting overviews of individual tumor syndromes in relation to their biology, epidemiology, pathogenesis, clinical features, diagnosis, treatment, and prognosis. Featuring contributions from oncologists, clinicians, and specialists, the book offers a reliable, comprehensive reference on tumor syndromes for scholars and students of medicine, dentistry, pharmacology, nursing, public health, and other biomedical disciplines. Key Features Reviews the biology, epidemiology, pathogenesis, and clinical features of tumor syndromes Contains up-to-date information on the diagnosis and treatment of tumor syndromes Includes expert coverage from leading oncologists and clinicians Related Titles J. R. McIntosh, Understanding Cancer: An Introduction to the Biology, Medicine, and Societal Implications of This Disease (ISBN 978-0-8153-4535-0) P. S. T. Shanmugam, Understanding Cancer Therapies (ISBN 978-1-1381-9815-9) J. M. Baehring and J. M. Piepmeier, eds., Brain Tumors: Practical Guide to Diagnosis and Treatment (ISBN 978-0-3673-9022-8) D. Liu, Tumors and Cancers: Endocrine Glands – Blood – Marrow – Lymph (ISBN 978-1-4987-2975-8) Dongyou Liu, PhD, has worked at several research and clinical laboratories in Australia and the United States for the past three decades, with a focus on molecular characterization of microbial pathogens and detection of human genetic disorders and tumors/cancers. He is the primary author of more than 50 original research and review articles in various peer-reviewed international journals, the contributor of 197 book chapters, and the editor of more than 10 books.

Book Description :

Hyperandrogenism profoundly affects women’s lives from lowering self-esteem to changing cognition and affective motivation. The polycystic ovary syndrome (PCOS) is the most common androgen excess disorder worldwide. While it is not the focus of this book, some aspects are discussed. The aim of this book is to improve understanding of androgen excess and its impact on several conditions. Topics include development of adipose tissue in females, insulin sensitivity, congenital adrenal hyperplasia, and Cushing’s disease/syndrome. There is also a discussion of PCOS with emphasis on in utero origins and specific genetic and epigenetic factors. This book provides a wealth of relevant information for every endocrinologist and gynecologist who wants to broaden their knowledge of androgens in various conditions.

Book Description :

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 Description :

The Plasticity of Sex: The Molecular Biology and Clinical Features of Genomic Sex, Gender Identity and Sexual Behavior provides a comprehensive view on the development of human sexuality. As there has been a crescendo of interest over the past several decades about the nature and diversity of human sexuality, this reference brings the evidence-based research into one place. The emergence of issues surrounding gender identity, genital ambivalence and the transition from one sex to another is striking, with the public and treating physicians alike clamoring for an evidence-based, comprehensive treatment of human sexuality and all its variations. This is a must-have reference for biomedical researchers in endocrinology, neuroscience, development biology, medical students, residents, and practicing physicians from all medical areas. Winner of the 2021 PROSE Award in Biomedicine from the Association of American Publishers! Discusses the role of biology in gender identity from research in genetics, endocrinology and neuroscience Addresses important health disparities and how to address them when treating the transgender patient Reviews evidence-based information on the biological basis and impact of environmental and hormonal factors at different life stages Outlines schema for treating variations in the sexuality and sexual function of the individual patient

Book Description :

Congenital adrenal hyperplasia (CAH) consists of a group of disorders of adrenal steroidogenesis. Each disorder results from an inherited deficiency of one of the several enzymes necessary for normal steroid synthesis. The different enzyme deficiencies produce characteristic patterns of hormonal abnormalities; the clinical symptoms of the different forms of CAH depend on the particular hormones that are deficient or that are produced in excess. The earliest documented description of CAH was by DeCrecchio in 1865 (DeCrecchio 1865). This Neapolitan anatomist described a cadaver having a penis with first degree hypospadias but no externally palpable gonads. Dis section revealed a vagina, uterus, fallopian tubes, ovaries, and markedly enlarged adrenals. It is interesting that the subject suffered a confusion of sex assignment, being declared a female at birth and a male 4 years later. He conducted himself as a male sexually and socially. Since the original descrip tion of this case, investigators have unravelled the pathophysiology of the inborn errors of steroidogenesis. 1 Steroidogenesis and Enzymatic Conversions of Adrenal Steroid Hormones A. Steroidogenesis The adrenal synthesizes three main classes of hormones: mineralocorticoids (17-deoxy pathway), glucocorticoids (17-hydroxy pathway), and sex steroids.

Book Description :

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 Description :

Written by experts and specialized investigators, this book presents a detailed overview of the recent progress in our understanding of the adrenal cortex and its pivotal roles in homeostasis. Genes, molecules and cell compartments directly or indirectly involved in the complex steroidogenesis pathway as well as the resulting end-hormones glucocorticoids, mineralocorticoids and androgens are analyzed. Furthermore, the defects of the genes responsible both for common and rare adrenal disorders are presented. The interactions of the adrenal cortices with the adrenal medulla and their importance in the integration of adrenocortical and adrenomedullary function are discussed. The complex molecular pathophysiology of congenital adrenal hyperplasia is presented; long-term effects of the disorder and the still controversial antenatal therapy are examined. Finally, expert review chapters discuss autoimmune Addison disease and the adrenoleukodystrophy/adrenomyeloneuropathy syndrome.Presenting novel research findings in adrenal gland physiology and pathophysiology, this book is a useful tool not only for pediatric endocrinologists, but also for clinicians and researchers studying human development, organogenesis, mitochondrial biology, nuclear receptors, stress biology and pharmacology.

Book Description :

Presents clinical, biochemical, and genetic information concerning those metabolic anomalies grouped under inborn errors of metabolism.

Book Description :

Download Congenital Adrenal Hyperplasia Unresolved Issues and Implications on Clinical Management book written by Sarantis Livadas,Djuro Macut,Constantine Stratakis, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Book Description :

This text addresses the need for a book specifically aimed at obstetric anesthesia and covers topics such as pulmonary, cardiac renal, hepatic, hematologic, neurologic, endocrine and other diseases. The real anesthetic challenge arises when patients present to Labor and Delivery with unusual or complicated medical problems and, in recent years, a few of the larger institutions have developed an Obstetric Anesthesiology Consultation Service to prepare for the management of these patients. While most pregnant women who present to Labor and Delivery require anesthetic intervention, they typically meet the anesthesiologist for the first time in labor. Since the majority of laboring women are healthy without significant comorbidities, this does not present much of a challenge to the anesthesiologist and the anesthetic management tends to be straight-forward with favorable outcomes. However, using this new model, the anesthesiologist has the opportunity to discuss the various treatment modalities and potentially suggest diagnostic testing to be performed prior to delivery, similar to the pre-operative testing that is done in other surgical environments.

Book Description :

Congenital Adrenal Hyperplasia: New Insights for the Healthcare Professional: 2013 Edition is a ScholarlyPaper™ that delivers timely, authoritative, and intensively focused information about Additional Research in a compact format. The editors have built Congenital Adrenal Hyperplasia: New Insights for the Healthcare Professional: 2013 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about Additional Research in this book to be deeper than what you can access anywhere else, as well as consistently reliable, authoritative, informed, and relevant. The content of Congenital Adrenal Hyperplasia: New Insights for the Healthcare Professional: 2013 Edition has been produced by the world’s leading scientists, engineers, analysts, research institutions, and companies. All of the content is from peer-reviewed sources, and all of it is written, assembled, and edited by the editors at ScholarlyEditions™ and available exclusively from us. You now have a source you can cite with authority, confidence, and credibility. More information is available at http://www.ScholarlyEditions.com/.

Book Description :

This book is designed to present a comprehensive and state-of the-art approach to the management of adrenal neoplasms that provides a resource to the broad group of providers that will encounter such a patient. Sections address issues that are faced by providers who encounter a patient with an adrenal neoplasm. These areas include an overview of the genetic basis and familial cancer syndrome-associated with adrenal neoplasms, pathobiology, advanced and tumor specific imaging approaches and technologies, biochemical analysis, standard medical and surgical therapies, and emerging technology and treatment approaches to benign and malignant adrenal neoplasms. Written by experts in the field, each of these sections address level of clinical evidence and provide recommendations and treatment algorithms. Extensive illustrations make this an interactive text. Management of Adrenal Masses in Children and Adults will serve as a very useful resource for all providers dealing with, and interested in this common but challenging tumor. It will provide a concise yet comprehensive summary of the current status of the field that will help guide patient management and stimulate investigative efforts.

Book Description :

Download Non classic Congenital Adrenal Hyperplasia caused with Common and Rare Forms Unresolved Issues and Implications on Clinical Management book written by Yu Li,Sarantis Livadas,Dongzi Yang,Kuang Yanping,Qinjie Tian, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Book Description :

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.