Genetic Steroid Disorders

Genetic Steroid Disorders
Author: Maria I. New,Oksana Lekarev,Alan Parsa,Tony T. Yuen,Bert O'Malley,Gary D Hammer
Publsiher: Academic Press
Total Pages: 406
Release: 2013-08-22
ISBN 10: 0123914671
ISBN 13: 9780123914675
Language: EN, FR, DE, ES & NL

Genetic Steroid Disorders Book Review:

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: Heino F.L. Meyer-Bahlburg
Publsiher: Elsevier Inc. Chapters
Total Pages: 406
Release: 2013-08-22
ISBN 10: 0128072989
ISBN 13: 9780128072981
Language: EN, FR, DE, ES & NL

Genetic Steroid Disorders Book Review:

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 quality of life, the factors that contribute to these outcomes, including neuroanatomy and brain function, and the implications for the clinician and the organization of health services.

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: Walter L. Miller,Zoran S. Gucev
Publsiher: Elsevier Inc. Chapters
Total Pages: 406
Release: 2013-08-22
ISBN 10: 0128072865
ISBN 13: 9780128072868
Language: EN, FR, DE, ES & NL

Genetic Steroid Disorders Book Review:

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 insufficiency and 46,XY disorders of sexual development (DSD). The lipoid CAH phenotype, including spontaneous puberty in 46,XX females, is explained by a two-hit model. StAR mutations that retain partial function cause milder non-classic disease characterized by glucocorticoid deficiency, with lesser disorders of mineralocorticoid and sex steroid synthesis. Rare P450scc mutations are clinically and hormonally indistinguishable from lipoid CAH, and may also present as milder non-classic disease. Adrenal imaging may distinguish these but is not 100% reliable, necessitating DNA sequencing.

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

Genetic Steroid Disorders

Genetic Steroid Disorders
Author: Charles Sultan,Pascal Philibert,Laura Gaspari,Francoise Audran,Laurent Maimoun,Nicolas Kalfa,Françoise Paris
Publsiher: Elsevier Inc. Chapters
Total Pages: 406
Release: 2013-08-22
ISBN 10: 0128072911
ISBN 13: 9780128072912
Language: EN, FR, DE, ES & NL

Genetic Steroid Disorders Book Review:

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 prognosis by examining the genotype–phenotype relationship and the possibility of somatic mutations. Last, we will address the role of genetic counseling and the elements that should be taken into account for the difficult decision of sex assignment in children affected with AIS.

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.

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 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).

Inborn Metabolic Diseases

Inborn Metabolic Diseases
Author: John Fernandes,Jean-Marie Saudubray,Georges van den Berghe
Publsiher: Springer Science & Business Media
Total Pages: 443
Release: 2013-03-14
ISBN 10: 3662031477
ISBN 13: 9783662031476
Language: EN, FR, DE, ES & NL

Inborn Metabolic Diseases Book Review:

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.

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.

Topics in Osteoporosis

Topics in Osteoporosis
Author: Margarita Valdés-Flores
Publsiher: BoD – Books on Demand
Total Pages: 290
Release: 2013-05-15
ISBN 10: 9535110667
ISBN 13: 9789535110668
Language: EN, FR, DE, ES & NL

Topics in Osteoporosis Book Review:

Osteoporosis affects the osteo-articular system. However, there are hormonal, kidney related, gastrointestinal and neuromuscular factors among other, that can be involved in the etiopathogenesis of the disease. In the other hand, for osteoporosis prevention there are many lifestyle conditions that are very important, as dietary habits, physical activity, drugs and caffeine intake, smoking, associated diseases, etc. Based on the above, treatment and prevention of osteoporosis have to be addressed in a multidisciplinary and integral approach. The knowledge about bone metabolism and the related disorders represents an extensive field that is currently increasing through many investigations conducted in the world. The purpose of this book is to show several reviews and original investigations related with osteoporosis.

Neuroplasticity Development and Steroid Hormone Action

Neuroplasticity  Development  and Steroid Hormone Action
Author: Robert J. Handa,Shinji Hayashi,Ei Terasawa,Mitsuhiro Kawata
Publsiher: CRC Press
Total Pages: 424
Release: 2001-07-30
ISBN 10: 1420041193
ISBN 13: 9781420041194
Language: EN, FR, DE, ES & NL

Neuroplasticity Development and Steroid Hormone Action Book Review:

Neuroplasticity, Development, and Steroid Hormone Action explores the effects of steroid hormones on brain development, function, and aging and is a compilation of cutting-edge research of concern to the disciplines of neurobiology, neuroendocrinology, endocrinology, and developmental biology. The experimental approaches covered range from molecular to behavioral and endocrine to neurobiological. The authors are noted neurobiologists and active researchers from the United States, Japan, and the United Kingdom. Divided into five sections and containing scientific photographs, line drawings, tables, color illustrations, and graphs, this interesting and timely text covers the neuroplastic effects of steroid hormones throughout the lifetime of various animal models, such as bees, fish, lizards, turtles, birds, mice, rats, and primates. These sections focus on: Ÿ The development and differentiation of neuroendocrine systems Ÿ Steroid dependent brain differentiation Ÿ The central regulation of hormone secretion Ÿ Steroid hormones and neuroplasticity in the mature brain Ÿ Steroid mediated mechanisms of cell growth and survival

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:

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

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