Genetic Steroid Disorders

Written By Maria I. New
Genetic Steroid Disorders
  • Publsiher : Elsevier Inc. Chapters
  • Release : 22 August 2013
  • ISBN : 0128072768
  • Pages : 406 pages
  • Rating : 4/5 from 21 reviews
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Read or download book entitled Genetic Steroid Disorders written by Maria I. New which was release on 22 August 2013, this book published by Elsevier Inc. Chapters. Available in PDF, EPUB and Kindle Format. Book excerpt: This book demonstrates that each steroid disorder causing both clinical and biochemical abnormalities in patients now has a genetic basis. The genes for each step in steroidogenesis have been mapped and cloned, and the mutations in the gene causing the disorder have been described. In addition, the structural biology of the protein resulting from the mutation in the gene has been reported for many of the disorders.

Genetic Steroid Disorders

Genetic Steroid Disorders
  • Author : Yewei Xing,John C. Achermann,Gary D. Hammer
  • Publisher : Elsevier Inc. Chapters
  • Release Date : 2013-08-22
  • Total pages : 406
  • ISBN : 0128072768
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Summary : The adrenal glands comprise two distinct endocrine organs: the inner medulla and the outer cortex. The inner medulla is made up of neuroectodermal cells derived from the neural crest and produces the catecholamine hormones norepinephrine and epinephrine, which are crucial for stress responses. The outer cortex is derived from the ...

Genetic Steroid Disorders

Genetic Steroid Disorders
  • Author : Maria I. New
  • Publisher : Elsevier Inc. Chapters
  • Release Date : 2013-08-22
  • Total pages : 406
  • ISBN : 0128072768
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Summary : This book demonstrates that each steroid disorder causing both clinical and biochemical abnormalities in patients now has a genetic basis. The genes for each step in steroidogenesis have been mapped and cloned, and the mutations in the gene causing the disorder have been described. In addition, the structural biology of ...

Genetic Steroid Disorders

Genetic Steroid Disorders
  • Author : Nicole Reisch,Ursula Kuhnle
  • Publisher : Elsevier Inc. Chapters
  • Release Date : 2013-08-22
  • Total pages : 406
  • ISBN : 0128072768
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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 : Phyllis W. Speiser
  • Publisher : Elsevier Inc. Chapters
  • Release Date : 2013-08-22
  • Total pages : 406
  • ISBN : 0128072768
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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 Steroid Disorders

Genetic Steroid Disorders
  • Author : Felix Beuschlein
  • Publisher : Elsevier Inc. Chapters
  • Release Date : 2013-08-22
  • Total pages : 406
  • ISBN : 0128072768
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Summary : Adrenal disorders that are caused by specific genetic alterations comprise a heterogeneous group of diseases with mostly low incidence that can affect patients from birth to adulthood. These conditions include failure of proper adrenal development resulting in adrenal agenesis or, conversely, adrenal tumorigenesis. Furthermore, deficiencies of adrenal steroidogenesis result in ...

Genetic Steroid Disorders

Genetic Steroid Disorders
  • Author : Maria I. New,Oksana Lekarev,Denesy Mancenido,Alan Parsa,Tony Yuen
  • Publisher : Elsevier Inc. Chapters
  • Release Date : 2013-08-22
  • Total pages : 406
  • ISBN : 0128072768
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Summary : 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 ...

Genetic Steroid Disorders

Genetic Steroid Disorders
  • Author : Perrin C. White
  • Publisher : Elsevier Inc. Chapters
  • Release Date : 2013-08-22
  • Total pages : 406
  • ISBN : 0128072768
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Summary : Humans have two isozymes with 11β-hydroxylase activity that are respectively required for cortisol and aldosterone synthesis. CYP11B1 (11β-hydroxylase) converts 11-deoxycortisol to cortisol and 11-deoxycorticosterone to corticosterone, is expressed at high levels and is regulated by ACTH. CYP11B2 (aldosterone synthase) is normally expressed at low levels and is regulated ...

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 : 0128072768
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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 : John W. Funder
  • Publisher : Elsevier Inc. Chapters
  • Release Date : 2013-08-22
  • Total pages : 406
  • ISBN : 0128072768
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Summary : Apparent mineralocorticoid excess (AME) reflects absent or impaired activity of the enzyme 11β-hydroxysteroid dehydrogenase type 2, allowing cortisol to activate epithelial mineralocorticoid receptors inappropriately. In the absence of enzyme activity patients show classic features of mineralocorticoid excess, with a diagnostic triad of hypertension, suppressed aldosterone levels, and raised urinary free cortisol:...

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 : 0128072768
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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 : Walter L. Miller,Zoran S. Gucev
  • Publisher : Elsevier Inc. Chapters
  • Release Date : 2013-08-22
  • Total pages : 406
  • ISBN : 0128072768
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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 : Richard J. Auchus
  • Publisher : Elsevier Inc. Chapters
  • Release Date : 2013-08-22
  • Total pages : 406
  • ISBN : 0128072768
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Summary : Steroid 17-hydroxylase 17,20-lyase (cytochrome P450c17, CYP17A1) occupies a critical position in the pathways of human steroidogenesis, regulating the classes of steroid hormones produced by cells of the adrenal glands and gonads. CYP17A1 catalyzes two major reactions: the 17-hydroxylase and 17,20-lyase reactions. Mutations that compromise all CYP17A1 ...

Genetic Steroid Disorders

Genetic Steroid Disorders
  • Author : Mabel Yau,Saroj Nimkarn
  • Publisher : Elsevier Inc. Chapters
  • Release Date : 2013-08-22
  • Total pages : 406
  • ISBN : 0128072768
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Summary : Apparent mineralocorticoid excess (AME) is a rare inherited form of hypertension caused by 11β-hydroxysteroid dehydrogenase type 2 (11β-HSD) deficiency. The disorder was first described biochemically and hormonally in 1977 by New et al. in a Native American girl with severe hypertension. AME defined an important “pre-receptor” pathway in steroid hormone action and ...

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 : 0128072768
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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 : Denesy Mancenido,Maria I. New
  • Publisher : Elsevier Inc. Chapters
  • Release Date : 2013-08-22
  • Total pages : 406
  • ISBN : 0128072768
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Summary : Congenital adrenal hyperplasia (CAH) owing to 21-hydroxylase deficiency (21OHD) is a disorder of adrenal steroidogenesis, which causes virilization of external genitalia in females affected with the severe form of the disease. However, genital ambiguity is preventable with prenatal treatment with dexamethasone during the first trimester. While prenatal treatment has remained ...