November 29, 2020

Download Ebook Free Genetic Steroid Disorders

Genetic Steroid Disorders

Genetic Steroid Disorders
Author : Denesy Mancenido,Maria I. New
Publisher : Elsevier Inc. Chapters
Release Date : 2013-08-22
Category : Medical
Total pages :406
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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 largely unchanged since its institution, prenatal diagnosis of CAH has witnessed a number of advancements in the past 50 years. The first successful prenatal diagnosis utilized hormonal measurements of the amniotic fluid. Elevated levels of 17α-hydroxyprogesterone in the amniotic fluid became diagnostic for a fetus affected with the severe form of the disorder. This finding was followed by the discovery of the close linkage between the disease and the HLA complex, which led to HLA linkage studies as a second approach for prenatal diagnosis. Cloning of the CYP21A2 gene ushered in molecular genetic analysis as the third method for prenatal diagnosis. Using polymerase chain reaction (PCR)-based methods to amplify the CYP21A2 active gene, and not the CYP21A1P pseudogene, diagnostic procedures increased in specificity and led to accurate prenatal diagnosis in the first trimester. The advent of non-invasive prenatal diagnosis heralds a new development for prenatal diagnosis of CAH, with the potential for improved safety, earlier detection, and increased accessibility.

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
Category : Medical
Total pages :406
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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.

Genetic Steroid Disorders

Genetic Steroid Disorders
Author : Karen Lin-Su,Oksana Lekarev,Maria I. New
Publisher : Elsevier Inc. Chapters
Release Date : 2013-08-22
Category : Medical
Total pages :406
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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. Final adult height was significantly higher than baseline predicted height in both males (172.0 + 4.8 cm versus 162.8 + 7.7 cm, P

Genetic Steroid Disorders

Genetic Steroid Disorders
Author : Amrit Bhangoo,Svetlana Ten
Publisher : Elsevier Inc. Chapters
Release Date : 2013-08-22
Category : Medical
Total pages :406
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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.

Exam Prep for: Genetic Steroid Disorders

Exam Prep for: Genetic Steroid Disorders
Author : Anonim
Publisher : Unknown
Release Date : 2020
Category :
Total pages :129
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Genetic Steroid Disorders

Genetic Steroid Disorders
Author : David E. Reichman,Zev Rosenwaks
Publisher : Elsevier Inc. Chapters
Release Date : 2013-08-22
Category : Medical
Total pages :406
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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 steroid enzyme deficiencies outlined.

Genetic Steroid Disorders

Genetic Steroid Disorders
Author : Nicole Reisch,Ursula Kuhnle
Publisher : Elsevier Inc. Chapters
Release Date : 2013-08-22
Category : Medical
Total pages :406
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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. In non-classic 21OHD the most common mutation worldwide is V281L (1685 G to T), being prevalent in about 60% of non-classic patients. This article summarizes the current knowledge on the observed geographical differences of mutation spectra of CAH in specific ethnic groups.

Genetic Steroid Disorders

Genetic Steroid Disorders
Author : Christa E. Flück,Amit V. Pandey
Publisher : Elsevier Inc. Chapters
Release Date : 2013-08-22
Category : Medical
Total pages :406
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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 activities of several steroid and drug metabolizing P450 proteins. Mutations in POR may have variable effects on different P450 partner proteins depending on the location of the mutation. The POR mutations that disrupt the binding of cofactors have a negative impact on all partner proteins, while mutations causing subtle structural changes may lead to altered interaction with partner proteins and the overall effect may be different for each partner.

Genetic Steroid Disorders

Genetic Steroid Disorders
Author : Phyllis W. Speiser
Publisher : Elsevier Inc. Chapters
Release Date : 2013-08-22
Category : Medical
Total pages :406
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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 medical practice, and cost–benefit analysis. This paper will discuss current thinking on selected controversies in the medical and surgical management of CAH. This discussion is based mainly on expert opinion and consensus of the endocrine community, as reflected in The Endocrine Society’s 2010 Clinical Practice Guidelines for the treatment of CAH (J Clin Endocrinol Metab 95: 4133–60).

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
Category : Science
Total pages :406
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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

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
Category :
Total pages :129
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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 their diseases. In the following article, we review the impact of genetic steroid disorders on human reproduction, as well as the treatments, where available, aimed at circumventing such hurdles. Adrenal disorders will first be described, followed by rare gonadal steroid disorders.

Inborn Metabolic Diseases

Inborn Metabolic Diseases
Author : John Fernandes,Jean-Marie Saudubray,Georges van den Berghe
Publisher : Springer Science & Business Media
Release Date : 2013-03-14
Category : Medical
Total pages :443
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Each disease-related chapter begins with a detailed description of the patient and the delineating symptoms used for establishing the diagnosis and differential diagnosis. The highly detailed figures illustrate the metabolic derangement in a uniform way, together with essential aspects of the genetics involved, thus affording clarification and better understanding of the treatment. Topics covered range from general aspects such as the clinical approach, emergency treatment, diagnostic procedures, and psychosocial care for the child and the family, to specific discussions of new modes of treatment, including liver, bone marrow transplantation and somatic gene therapy.

Endocrinology: Adult and Pediatric E-Book

Endocrinology: Adult and Pediatric E-Book
Author : J. Larry Jameson,Leslie J. De Groot
Publisher : Elsevier Health Sciences
Release Date : 2015-02-25
Category : Medical
Total pages :2700
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Considered the definitive source in its field for over 35 years, Endocrinology: Adult and Pediatric, has been thoroughly updated to reflect today's recent advances in adult and pediatric endocrinology. Unique perspectives from a team of trusted, world-renowned experts ensure this medical reference book remains the most highly-regarded text in the field. Make the best clinical decisions with an enhanced emphasis on evidence-based practice and expert opinions on treatment strategies. Zero in on the most relevant and useful references with the aid of a more focused, concise bibliography. Locate information quickly, while still getting the complete coverage you expect. Expanded coverage for key topics such as pediatric endocrinology and obesity mechanisms and treatment, in addition to today's hot topics in endocrinology, including endocrine disruptors, bariatric surgery, androgen deficiency, genetic causes of obesity, endocrine rhythms, and the use of tyrosine kinase inhibitors in thyroid cancer. New content addressing the latest advances in testosterone and estrogen replacement, as well as the new causes of calcium and phosphate disorders, new molecular causes of endocrine cancers, new genetic causes of reproductive disorders, and more. Updated clinical guidelines for diabetes, lipid disorders, obesity management, osteoporosis, and more, as well as essential treatment updates for the medical management of acromegaly, Cushing's Disease, hypercalcemia, and diabetes mellitus. New Key Points provide snapshots of what to expect in each chapter, or serve as a refresher of what you just read. Consult this title on your favorite e-reader.

Genetics of Steroid Biosynthesis and Function

Genetics of Steroid Biosynthesis and Function
Author : J.I. Mason
Publisher : CRC Press
Release Date : 2002-05-23
Category : Medical
Total pages :500
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Steroids are among the most widely prescribed drugs for humans, and steroid signaling pathways are present in vertebrates, plants, insects and fungi, presenting new avenues for biotechnological intervention. Genetics of Steroid Biosynthesis and Function focuses on the genetic and cellular aspects of mammalian steroid hormones with particular attent

Genetic Diagnosis of Endocrine Disorders

Genetic Diagnosis of Endocrine Disorders
Author : Roy E. Weiss,Samuel Refetoff
Publisher : Academic Press
Release Date : 2015-10-09
Category : Medical
Total pages :472
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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