Genetic Steroid Disorders

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Read or download book entitled Genetic Steroid Disorders written by Maria I. New and published by Academic Press in PDF, EPUB and Kindle Format. Click Get This Book button to download or read online books. Join over 650.000 happy Readers and READ as many books as you like. We cannot guarantee that Genetic Steroid Disorders book is available in the library.

  • Publisher : Academic Press
  • Release : 22 August 2013
  • ISBN : 9780123914675
  • Page : 406 pages
  • Rating : 4.5/5 from 103 voters

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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

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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
  • ISBN : 9780123914675
GET THIS BOOKGenetic Steroid Disorders

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

Genetic Steroid Disorders

Genetic Steroid Disorders
  • Author : Maria I. New,Bert O'Malley,Gary D. Hammer,Oksana Lekarev,Alan Parsa,Mone Zaidi,Tony T. Yuen,Ahmed Khattab
  • Publisher : Academic Press
  • Release Date : 2023-02-01
  • ISBN : 9780128214251
GET THIS BOOKGenetic Steroid Disorders

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!

Genetic Steroid Disorders

Genetic Steroid Disorders
  • Author : David E. Reichman,Zev Rosenwaks
  • Publisher : Elsevier Inc. Chapters
  • Release Date : 2013-08-22
  • ISBN : 9780128073025
GET THIS BOOKGenetic Steroid Disorders

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 be explored with respect to their effects on human reproduction, the mechanisms whereby fertility is limited or precluded will be described, and existing as well as emerging therapies for genetic

Genetic Steroid Disorders

Genetic Steroid Disorders
  • Author : Nicole Reisch,Ursula Kuhnle
  • Publisher : Elsevier Inc. Chapters
  • Release Date : 2013-08-22
  • ISBN : 9780128073049
GET THIS BOOKGenetic Steroid Disorders

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 CAH and revealed ethnic-specific mutations. Worldwide, the most common mutations in the severe salt-wasting form of 21OHD are the IVS2, the intron 2 splicing mutation, and a large deletion in exon 3.

Genetic Steroid Disorders

Genetic Steroid Disorders
  • Author : Christa E. Flück,Amit V. Pandey
  • Publisher : Elsevier Inc. Chapters
  • Release Date : 2013-08-22
  • ISBN : 9780128072851
GET THIS BOOKGenetic Steroid Disorders

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-hydroxylase, and aromatase. Since the initial reports of POR mutations in 2004, more than 70 different mutations and polymorphisms in the POR gene have been identified and tested for their effect on

Genetic Steroid Disorders

Genetic Steroid Disorders
  • Author : David W. Russell,Jean D. Wilson
  • Publisher : Elsevier Inc. Chapters
  • Release Date : 2013-08-22
  • ISBN : 9780128072899
GET THIS BOOKGenetic Steroid Disorders

Loss-of-function mutations in the steroid 5α-reductase 2 gene (SRD5A2) cause a disorder of male sexual differentiation in which the prostate does not form and external genitalia develop along female lines. Failure to synthesize dihydrotestosterone in fetal tissues that give rise to the male urogenital tract underlies the phenotype that characterizes this disorder. Studies of the SRD5A2 gene and its encoded enzyme at the molecular, biochemical, and endocrinological levels established the crucial role of dihydrotestosterone in formation of the male

Genetic Steroid Disorders

Genetic Steroid Disorders
  • Author : Yves Morel,Florence Roucher,Ingrid Plotton,Jacques Simard,Mauricio Coll
  • Publisher : Elsevier Inc. Chapters
  • Release Date : 2013-08-22
  • ISBN : 9780128072837
GET THIS BOOKGenetic Steroid Disorders

The transformation of Δ5-3β-hydroxysteroids into the corresponding Δ4-3-keto-steroids is an essential step for the biosynthesis of all classes of active steroids: progesterone, mineralocorticoids, glucocorticoids, androgens, and estrogens. These steroid hormones play a crucial role in the differentiation, development, growth, and physiological function of most human tissues. The 3β-HSD deficiency (OMIM +201810), transmitted in an autosomic recessive disorder, is characterized by varying degrees of salt wasting; in genetic males, fetal testicular 3ß-HSD deficiency causes an undervirilized male genitalia (male pseudohermaphroditism);

Genetic Steroid Disorders

Genetic Steroid Disorders
  • Author : Berenice B. Mendonca,Elaine M.F. Costa,Marlene Inacio,Ari A. Oliveira Junior,Regina M. Martin,Mirian Y. Nishi,Aline Z. Machado,Filomena Marino Carvalho,Francisco Denes Tibor,Sorahia Domenice
  • Publisher : Elsevier Inc. Chapters
  • Release Date : 2013-08-22
  • ISBN : 9780128072882
GET THIS BOOKGenetic Steroid Disorders

17β-hydroxysteroid dehydrogenase 3 deficiency (17β-HSD3) consists of a defect in the last phase of steroidogenesis, in which androstenedione is converted into testosterone and estrone into estradiol. Patients present female-like or with ambiguous genitalia at birth and most affected males are raised as females. Virilization in subjects with 17β-HSD3 deficiency occurs at the time of puberty and almost half change to be males. Maintenance of the testes in patients raised male is safe and recommended, except when the testes cannot be positioned

Genetic Steroid Disorders

Genetic Steroid Disorders
  • Author : Amrit Bhangoo,Svetlana Ten
  • Publisher : Elsevier Inc. Chapters
  • Release Date : 2013-08-22
  • ISBN : 9780128073070
GET THIS BOOKGenetic Steroid Disorders

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 : Hayk Barseghyan,Eric Vilain
  • Publisher : Elsevier Inc. Chapters
  • Release Date : 2013-08-22
  • ISBN : 9780128072950
GET THIS BOOKGenetic Steroid Disorders

Ovotesticular DSDs (OT-DSDs) are disorders of sex development in which both testicular and ovarian tissues are present in the same individual. We review the phenotypic variability of OT-DSDs, their sex chromosome constitution, and their molecular genetics, which remain for most patients, poorly understood.

Genetic Steroid Disorders

Genetic Steroid Disorders
  • Author : Walter L. Miller,Zoran S. Gucev
  • Publisher : Elsevier Inc. Chapters
  • Release Date : 2013-08-22
  • ISBN : 9780128072868
GET THIS BOOKGenetic Steroid Disorders

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, and cholesterol is converted to pregnenolone within mitochondria by the cholesterol side chain cleavage enzyme, P450scc. Severe StAR mutations cause classic congenital lipoid adrenal hyperplasia (CAH), characterized by adrenal

Genetic Steroid Disorders

Genetic Steroid Disorders
  • Author : Mabel Yau,Saroj Nimkarn
  • Publisher : Elsevier Inc. Chapters
  • Release Date : 2013-08-22
  • ISBN : 9780128072929
GET THIS BOOKGenetic Steroid Disorders

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 their specificities to the receptor. The exploration of the pathogenesis of AME opened a new area in receptor biology as a result of the demonstration that the specificity of the

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
  • ISBN : 9780128072905
GET THIS BOOKGenetic Steroid Disorders

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 relevance to human biology has been uncertain. The classic and backdoor pathways share many enzymes, but a 3α-reductase, AKR1C2, is unique to the backdoor pathway. Human AKR1C2 mutations

Genetic Steroid Disorders

Genetic Steroid Disorders
  • Author : Perrin C. White
  • Publisher : Elsevier Inc. Chapters
  • Release Date : 2013-08-22
  • ISBN : 9780128072813
GET THIS BOOKGenetic Steroid Disorders

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 mainly by angiotensin II and potassium levels. The latter enzyme also has 18-hydroxylase and 18-oxidase activities and thus can synthesize aldosterone from deoxycorticosterone. Mutations in the CYP11B1 gene cause

Genetic Steroid Disorders

Genetic Steroid Disorders
  • Author : Sowmya Krishnan,Amy B. Wisniewski
  • Publisher : Elsevier Inc. Chapters
  • Release Date : 2013-08-22
  • ISBN : 9780128072820
GET THIS BOOKGenetic Steroid Disorders

Ambiguous genitalia can be associated with disorders of sex development (DSD). DSD occurs when a person is born with discordant genetic, gonadal, or anatomic sex. Here we discuss typical-appearing external genital appearance in unaffected males and females followed by descriptions of ambiguous genitalia in newborns with 46,XY DSD, 46,XX DSD, syndromes associated with multiple congenital anomalies including, but not limited to, ambiguous genitalia, ovotesticular DSD, and mixed gonadal dysgenesis in newborns who possess a Y chromosome. We provide guidance to