Genetic Steroid Disorders

Genetic Steroid Disorders
Author: Maria I. New
Publsiher: Elsevier Inc. Chapters
Total Pages: 406
Release: 2013-08-22
ISBN 10: 0128072768
ISBN 13: 9780128072769
Language: EN, FR, DE, ES & NL

Genetic Steroid Disorders Book Review:

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: Amrit Bhangoo,Svetlana Ten
Publsiher: Elsevier Inc. Chapters
Total Pages: 406
Release: 2013-08-22
ISBN 10: 0128073071
ISBN 13: 9780128073070
Language: EN, FR, DE, ES & NL

Genetic Steroid Disorders Book Review:

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: Karen Lin-Su,Oksana Lekarev,Maria I. New
Publsiher: Elsevier Inc. Chapters
Total Pages: 406
Release: 2013-08-22
ISBN 10: 0128072806
ISBN 13: 9780128072806
Language: EN, FR, DE, ES & NL

Genetic Steroid Disorders Book Review:

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

Exam Prep for Genetic Steroid Disorders

Exam Prep for  Genetic Steroid Disorders
Author: Anonim
Publsiher: Unknown
Total Pages: 329
Release: 2021
ISBN 10:
ISBN 13:
Language: EN, FR, DE, ES & NL

Exam Prep for Genetic Steroid Disorders Book Review:

Genetic Steroid Disorders

Genetic Steroid Disorders
Author: Anna Biason-Lauber,Amit V. Pandey,Walter L. Miller,Christa E. Flück
Publsiher: Elsevier Inc. Chapters
Total Pages: 406
Release: 2013-08-22
ISBN 10: 0128072903
ISBN 13: 9780128072905
Language: EN, FR, DE, ES & NL

Genetic Steroid Disorders Book Review:

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 cause disordered sexual differentiation, establishing that both pathways are required for normal human male genital development. These observations show that fetal dihydrotestosterone acts both hormonally and as a paracrine factor, substantially revising the classic paradigm for fetal male sexual development.

The Impact of Genetic Steroid Disorders on Human Fertility

The Impact of Genetic Steroid Disorders on Human Fertility
Author: Anonim
Publsiher: Unknown
Total Pages: 329
Release: 2017
ISBN 10:
ISBN 13: OCLC:1052083370
Language: EN, FR, DE, ES & NL

The Impact of Genetic Steroid Disorders on Human Fertility Book Review:

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.

Genetic Steroid Disorders

Genetic Steroid Disorders
Author: David E. Reichman,Zev Rosenwaks
Publsiher: Elsevier Inc. Chapters
Total Pages: 406
Release: 2013-08-22
ISBN 10: 0128073020
ISBN 13: 9780128073025
Language: EN, FR, DE, ES & NL

Genetic Steroid Disorders Book Review:

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
Publsiher: Elsevier Inc. Chapters
Total Pages: 406
Release: 2013-08-22
ISBN 10: 0128073047
ISBN 13: 9780128073049
Language: EN, FR, DE, ES & NL

Genetic Steroid Disorders Book Review:

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: Phyllis W. Speiser
Publsiher: Elsevier Inc. Chapters
Total Pages: 406
Release: 2013-08-22
ISBN 10: 0128073055
ISBN 13: 9780128073056
Language: EN, FR, DE, ES & NL

Genetic Steroid Disorders Book Review:

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: Perrin C. White
Publsiher: Elsevier Inc. Chapters
Total Pages: 406
Release: 2013-08-22
ISBN 10: 0128072814
ISBN 13: 9780128072813
Language: EN, FR, DE, ES & NL

Genetic Steroid Disorders Book Review:

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 steroid 11β-hydroxylase deficiency, a form of congenital adrenal hyperplasia. Mutations in CYP11B2 result in aldosterone synthase deficiency, which can cause hyponatremia, hyperkalemia and hypovolemia in infancy. These are both recessive disorders. Unequal crossing over between the CYP11B genes can generate a duplicated chimeric gene, causing glucocorticoid-suppressible hyperaldosteronism, an autosomal dominant form of hypertension. Frequent polymorphisms in these genes can affect aldosterone secretion and risk of hypertension.

Genetics of Steroid Biosynthesis and Function

Genetics of Steroid Biosynthesis and Function
Author: J.I. Mason
Publsiher: CRC Press
Total Pages: 500
Release: 2002-05-23
ISBN 10: 0203301498
ISBN 13: 9780203301494
Language: EN, FR, DE, ES & NL

Genetics of Steroid Biosynthesis and Function Book Review:

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
Publsiher: Academic Press
Total Pages: 472
Release: 2015-10-09
ISBN 10: 0128011343
ISBN 13: 9780128011348
Language: EN, FR, DE, ES & NL

Genetic Diagnosis of Endocrine Disorders Book Review:

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

Genetic Biochemical Disorders

Genetic Biochemical Disorders
Author: Philip F. Benson,Anthony H. Fensom
Publsiher: Oxford University Press, USA
Total Pages: 692
Release: 1985
ISBN 10:
ISBN 13: UOM:39015009568901
Language: EN, FR, DE, ES & NL

Genetic Biochemical Disorders Book Review:

Sex Hormones in Neurodegenerative Processes and Diseases

Sex Hormones in Neurodegenerative Processes and Diseases
Author: Gorazd Drevensek
Publsiher: BoD – Books on Demand
Total Pages: 358
Release: 2018-05-02
ISBN 10: 1789230144
ISBN 13: 9781789230147
Language: EN, FR, DE, ES & NL

Sex Hormones in Neurodegenerative Processes and Diseases Book Review:

The book provides chapters on sex hormones and their modulation in neurodegenerative processes and pathologies, from basic molecular mechanisms, physiology, gender differences, to neuroprotection and clinical aspects for potential novel pharmacotherapy approaches. The book contains 14 chapters written by authors from various biomedical professions, from basic researchers in biology and physiology to medicine and veterinary medicine, pharmacologists, psychiatrist, etc. Chapters sum up the past and current knowledge on sex hormones, representing original new insights into their role in brain functioning, mental disorders and neurodegenerative diseases. The book is written for a broad range of audience, from biomedical students to highly profiled medical specialists and biomedical researchers, helping them to expand their knowledge on sex hormones in neurodegenerative processes and opening new questions for further investigation.

Fetal Therapy

Fetal Therapy
Author: Mark I. Evans,L.D. Platt,F. de la Cruz
Publsiher: CRC Press
Total Pages: 138
Release: 2001-02-15
ISBN 10: 9781850700647
ISBN 13: 1850700648
Language: EN, FR, DE, ES & NL

Fetal Therapy Book Review:

Diagnostic techniques such as amniocentesis and ultrasound have expanded the armamentarium of prenatal diagnosis. As diagnostic techniques increase in accuracy, the demand for something other than selective termination of pregnancy will also increase. The ultimate goal of this line of research has always been fetal therapy, not just the ability to make the diagnosis. Fetal Therapy provides in-depth coverage of diagnostic techniques and therapies for fetal abnormalities. Photographs and line drawings illustrate the techniques discussed and concise tables make the data easy to find. It is the first book to cover emerging techniques for diagnosing fetal abnormalities with an essentially no-risk, noninvasive test of maternal blood at 7-8 weeks' gestation. In addition to up-to-date information on the latest technology in this field, the book also examines ethical issues from a historic perspective and ethical considerations in offering and recommending fetal therapy for the fetal patient. Bringing together new ideas and possibilities for new procedures Fetal Therapy explores the issues involved in expanding the applicability and availability of prenatal diagnosis and the options for treatment.

Genetics of Endocrine Disorders An Issue of Endocrinology and Metabolism Clinics of North America E Book

Genetics of Endocrine Disorders  An Issue of Endocrinology and Metabolism Clinics of North America E Book
Author: Constantine A. Stratakis
Publsiher: Elsevier Health Sciences
Total Pages: 329
Release: 2017-05-11
ISBN 10: 0323530060
ISBN 13: 9780323530064
Language: EN, FR, DE, ES & NL

Genetics of Endocrine Disorders An Issue of Endocrinology and Metabolism Clinics of North America E Book Book Review:

This issue of Endocrinology and Metabolism Clinics, guest edited by Dr. Constantine A. Stratakis, is devoted to Genetics in Endocrine Disorders. Articles in this issue include: Genetics of Short Stature; Genetics of Diabetes Insipidus; Pituitary Hypoplasia; Pituitary Tumor Genetics and Associated Syndromes; Defects of Thyroid Hormone Synthesis; Molecular Genetics of Thyroid Cancer; Genetics of Hyperparathyroidism Including Parathyroid Cancer; Genetics of Adrenocortical Development and Tumors; Genetics of Congenital Adrenal Hyperplasia; Genetics of Pheochromocytomas and Related Conditions; Genetics of Multiple Endocrine Neoplasia Type 1 and Type 2 Syndromes; Genetics of Hypogonadotrophic Hypogonadism and Kallman Syndrome; Disorders of Sex Development; Genetics of Lipodystrophy; and PTEN-Spectrum Disorders.

Noonan Syndrome

Noonan Syndrome
Author: Amrit P.S. Bhangoo
Publsiher: Academic Press
Total Pages: 215
Release: 2019-05-16
ISBN 10: 0128153490
ISBN 13: 9780128153499
Language: EN, FR, DE, ES & NL

Noonan Syndrome Book Review:

Noonan Syndrome: Characteristics and Interventions provides an in-depth analysis on this disorder that pediatric endocrinologists and primary care clinicians can use to make sure they provide affected patients with an updated model of care and appropriate treatment. The book examines recent advances in understanding and treating short stature in Noonan Syndrome, along with the latest progress in growth hormone-dependent signaling pathways involved in short stature, one of the most frequent clinical manifestations. Chapters also address how patients with Noonan Syndrome undergo more than average surgical procedures and have a great bleeding risk. This must have reference for pediatric endocrinologists and practicing physicians will give them all the information they need on the topic. Provides an accessible, up-to-date overview of the characteristics, state-of-the-art diagnostic procedures, and management of Noonan syndrome Offers an important resource for physicians who see and treat individual symptoms, rather than a disease complex, covering the important characteristics in the presence of heart anomalies and perioperative considerations Reviews multidisciplinary and post-treatment management of the disease

Genetic Disorders and the Fetus

Genetic Disorders and the Fetus
Author: Aubrey Milunsky
Publsiher: Unknown
Total Pages: 880
Release: 1992
ISBN 10:
ISBN 13: UOM:39015028429036
Language: EN, FR, DE, ES & NL

Genetic Disorders and the Fetus Book Review:

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 ethical issues surrounding prenatal diagnosis. Aubrey Milunsky's strong editorial input assures a well-organized, thorough, and cohesive text.

Genetics and Genomics of Eye Disease

Genetics and Genomics of Eye Disease
Author: Xiaoyi Raymond Gao
Publsiher: Academic Press
Total Pages: 383
Release: 2019-09-12
ISBN 10: 0128167270
ISBN 13: 9780128167274
Language: EN, FR, DE, ES & NL

Genetics and Genomics of Eye Disease Book Review:

Genetics and Genomics of Eye Disease: Advancing to Precision Medicine thoroughly examines the latest genomics methods for studying eye disease, including complex eye disorders associated with multiple genes. GWAS, WES, WGS, RNA-sequencing, and transcriptome analysis as employed in ocular genomics are discussed in-depth, as are genomics findings tied to early-onset glaucoma, strabismus, age-related macular degeneration, adult-onset glaucoma, diabetic retinopathy, keratoconus, and leber congenital amaurosis, among other diseases. Research and clinical specialists offer guidance on conducting preventative screenings and counseling patients, as well as the promise of machine learning, computational statistics and artificial intelligence in advancing ocular genomics research. Offers thorough guidance on conducting genetic and genomic studies of eye disease Examines the genetic basis of a wide range of complex eye diseases and single-gene and Mendelian disorders Discusses the application of genetic testing and genetic risk prediction in eye disease diagnosis and patient counseling

Endocrine Biomarkers

Endocrine Biomarkers
Author: Hossein Sadrzadeh,Gregory Kline
Publsiher: Elsevier
Total Pages: 478
Release: 2017-09-25
ISBN 10: 0128034181
ISBN 13: 9780128034187
Language: EN, FR, DE, ES & NL

Endocrine Biomarkers Book Review:

Endocrine Biomarkers: Clinical Aspects and Laboratory Determination covers all the pre-analytical variables that can affect test results, both in the clinic and laboratory. Biomarkers of endocrine and bone diseases are discussed from both clinical and laboratory perspectives, and the authors elaborate on the teamwork-based app+roach between the clinician and the laboratory professional in the diagnosis and management of endocrine and bone disorders. Discussions include test utilization, laboratory measurement methods, harmonization and standardization, interpretation of results, and reference intervals. Each chapter ends with a discussion of one or two relevant cases with shared opinions from both a clinician and a clinical chemist. Each chapter also includes a summary box outlining key points and common pitfalls in the use of specific disease biomarkers and tests. Focuses on the traditional, current, and emerging clinical chemistry tests for endocrine and bone diseases, along with their application in individual clinical management Presents a brief discussion of each disorder and its respective interrelationships, along with laboratory methodologies that can be used to aid in evaluation of disorders Reviews common approaches to the measurement of the relevant hormones, with a special focus on measures that require a structured clinical testing scenario Reviews novel chemistry tests as potential means of future diagnostic tests Provides an overview of the current methodology and controversies in the concept of target lipid levels, paying particular attention to the role of clinical chemistry in helping to implement population health targets