Genetic Steroid Disorders

Written By Maria I. New
Genetic Steroid Disorders
  • Publsiher : Academic Press
  • Release : 22 August 2013
  • ISBN : 0123914671
  • Pages : 406 pages
  • Rating : /5 from reviews
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Download or read book entitled Genetic Steroid Disorders by author: Maria I. New which was release on 22 August 2013 and published by Academic Press with total page 406 pages . This book available in PDF, EPUB and Kindle Format. 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

Genetic Steroid Disorders

Genetic Steroid Disorders
  • Author : Maria I. New,Oksana Lekarev,Alan Parsa,Tony T. Yuen,Bert O'Malley,Gary D Hammer
  • Publisher : Academic Press
  • Release Date : 2013-08-22
  • Total pages : 406
  • ISBN : 0123914671
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Summary : 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 ...

Genetic Steroid Disorders

Genetic Steroid Disorders
  • Author : Heino F.L. Meyer-Bahlburg
  • Publisher : Elsevier Inc. Chapters
  • Release Date : 2013-08-22
  • Total pages : 406
  • ISBN : 0123914671
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Summary : The syndromes of congenital adrenal hyperplasia, particularly their classical variants, present diverse medical and psychosocial challenges to the affected individual that may affect all stages of life from the prenatal phase through old age. This chapter reviews the psychological outcomes in terms of gender, general cognitive development, psychopathology, sexuality, and ...

Genetic Steroid Disorders

Genetic Steroid Disorders
  • Author : Amrit Bhangoo,Svetlana Ten
  • Publisher : Elsevier Inc. Chapters
  • Release Date : 2013-08-22
  • Total pages : 406
  • ISBN : 0123914671
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Summary : A 46,XY DSD is a condition in which a child has a 46,XY genotype but in whom gonadal, or anatomical, sex is atypical. A 46,XY DSD can be caused by multiple etiologies, most commonly involving disruption in both androgen production and/or action....

Genetic Steroid Disorders

Genetic Steroid Disorders
  • Author : Walter L. Miller,Zoran S. Gucev
  • Publisher : Elsevier Inc. Chapters
  • Release Date : 2013-08-22
  • Total pages : 406
  • ISBN : 0123914671
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Summary : Steroidogenesis begins with internalization of low-density lipoprotein particles and subsequent intracellular processing of cholesterol. Disorders in these steps include adrenoleukodystrophy, Wolman disease, and Niemann–Pick type C disease, which may present as adrenal insufficiency. Cholesterol delivery to the inner mitochondrial membrane is regulated by the steroidogenic acute regulatory protein, StAR, ...

Genetic Steroid Disorders

Genetic Steroid Disorders
  • Author : Karen Lin-Su,Oksana Lekarev,Maria I. New
  • Publisher : Elsevier Inc. Chapters
  • Release Date : 2013-08-22
  • Total pages : 406
  • ISBN : 0123914671
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Summary : Many patients with congenital adrenal hyperplasia (CAH) do not reach a final adult height within their parentally determined target height range. Our group has reported the effect of growth hormone (GH) alone or in combination with luteinizing hormone releasing hormone analog (LHRHa) on final adult height in 34 patients with CAH. ...

Exam Prep for Genetic Steroid Disorders

Exam Prep for  Genetic Steroid Disorders
  • Author : Anonim
  • Publisher : Unknown
  • Release Date : 2021-05-08
  • Total pages : 212
  • ISBN : 0123914671
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Summary : Read online Exam Prep for Genetic Steroid Disorders written by , published by which was released on . Download full Exam Prep for Genetic Steroid Disorders Books now! Available in PDF, ePub and Kindle....

Genetic Steroid Disorders

Genetic Steroid Disorders
  • Author : Charles Sultan,Pascal Philibert,Laura Gaspari,Francoise Audran,Laurent Maimoun,Nicolas Kalfa,Françoise Paris
  • Publisher : Elsevier Inc. Chapters
  • Release Date : 2013-08-22
  • Total pages : 406
  • ISBN : 0123914671
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Summary : After reviewing the mechanisms of androgen action, we will look at the main clinical features of androgen insensitivity, as well as the biological, cellular, and molecular tools used to investigate the AR. Numerous AR mutations have been described over the past 20 years. We will consider the challenges for diagnosis and ...

Genetic Steroid Disorders

Genetic Steroid Disorders
  • Author : Anna Biason-Lauber,Amit V. Pandey,Walter L. Miller,Christa E. Flück
  • Publisher : Elsevier Inc. Chapters
  • Release Date : 2013-08-22
  • Total pages : 406
  • ISBN : 0123914671
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Summary : Following development of the fetal bipotential gonad into a testis, male genital differentiation requires testicular androgens. Fetal Leydig cells produce testosterone that is converted to dihydrotestosterone in genital skin, resulting in labioscrotal fusion. An alternative “backdoor” pathway of dihydrotestosterone synthesis that bypasses testosterone has been described in marsupials, but its ...

The Impact of Genetic Steroid Disorders on Human Fertility

The Impact of Genetic Steroid Disorders on Human Fertility
  • Author : Anonim
  • Publisher : Unknown
  • Release Date : 2017
  • Total pages : 212
  • ISBN : 0123914671
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Summary : Abstract: Human fertility requires an exquisitely complex orchestration of steroid hormone action to affect the necessary elements of reproduction, including folliculogenesis, endometrial advancement, ovulation, and implantation. Individuals affected by genetic steroid disorders often face substantial challenges to these crucial elements of fertility, in addition to the broader health implications of ...

Genetic Steroid Disorders

Genetic Steroid Disorders
  • Author : David E. Reichman,Zev Rosenwaks
  • Publisher : Elsevier Inc. Chapters
  • Release Date : 2013-08-22
  • Total pages : 406
  • ISBN : 0123914671
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Summary : Human genetic steroid defects have profound impacts on the reproductive potential of affected individuals. Fortunately, advances in our understanding of the genetic and physiologic nuances of these disorders have led to the successful restoration of fertility for patients with several such diseases. In this chapter, the genetic steroid disorders will ...

Genetic Steroid Disorders

Genetic Steroid Disorders
  • Author : Nicole Reisch,Ursula Kuhnle
  • Publisher : Elsevier Inc. Chapters
  • Release Date : 2013-08-22
  • Total pages : 406
  • ISBN : 0123914671
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Summary : Over the past two decades, genetics of congenital adrenal hyperplasia (CAH) have been extensively studied. The introduction of newborn screening programs in most western countries for CAH caused by 21-hydroxylase deficiency (21OHD) and genetic studies in different ethnic populations have enabled more accurate data concerning the distribution and incidence of ...

Genetic Steroid Disorders

Genetic Steroid Disorders
  • Author : Christa E. Flück,Amit V. Pandey
  • Publisher : Elsevier Inc. Chapters
  • Release Date : 2013-08-22
  • Total pages : 406
  • ISBN : 0123914671
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Summary : Cytochrome P450 oxidoreductase (POR) is an enzyme that is essential for multiple metabolic processes; chiefly among them are reactions catalyzed by cytochrome P450 proteins for metabolism of steroid hormones, drugs, and xenobiotics. Mutations in POR cause a complex set of disorders that often resemble defects in steroid metabolizing enzymes 17-hydroxylase, 21...

Genetic Steroid Disorders

Genetic Steroid Disorders
  • Author : Phyllis W. Speiser
  • Publisher : Elsevier Inc. Chapters
  • Release Date : 2013-08-22
  • Total pages : 406
  • ISBN : 0123914671
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Summary : Congenital adrenal hyperplasia (CAH) is among the group of inherited disorders now included in newborn screening programs throughout the USA and in many other developed countries. As patients are diagnosed earlier and survive longer into adult life, current therapeutic dilemmas concern individual quality of life, adherence to ethical principles of ...

Genetic Biochemical Disorders

Genetic Biochemical Disorders
  • Author : Philip F. Benson,Anthony H. Fensom
  • Publisher : Oxford University Press, USA
  • Release Date : 1985
  • Total pages : 692
  • ISBN : 0123914671
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Summary : Read online Genetic Biochemical Disorders written by Philip F. Benson,Anthony H. Fensom, published by Oxford University Press, USA which was released on 1985. Download full Genetic Biochemical Disorders Books now! Available in PDF, ePub and Kindle....

Genetic Disorders and the Fetus

Genetic Disorders and the Fetus
  • Author : Aubrey Milunsky
  • Publisher : Unknown
  • Release Date : 1992
  • Total pages : 880
  • ISBN : 0123914671
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Summary : The third edition of this major reference work on the subject of prenatal diagnosis reflects the advances in research and clinical care since the previous edition in 1986. Authors of international repute discuss the biology and diagnosis of different heritable disorders, the techniques of diagnosis, the otions, and the medicolegal and ...