Genetic Steroid Disorders

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.

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  • Author : Maria I. New
  • Publisher : Elsevier Inc. Chapters
  • Pages : 406 pages
  • ISBN : 0128072768
  • Rating : 4/5 from 21 reviews
CLICK HERE TO GET THIS BOOKGenetic Steroid Disorders

Genetic Steroid Disorders

Genetic Steroid Disorders
  • Author : Maria I. New
  • Publisher : Elsevier Inc. Chapters
  • Release : 22 August 2013
GET THIS BOOKGenetic Steroid Disorders

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
  • Publisher : Elsevier Inc. Chapters
  • Release : 22 August 2013
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 : Karen Lin-Su,Oksana Lekarev,Maria I. New
  • Publisher : Elsevier Inc. Chapters
  • Release : 22 August 2013
GET THIS BOOKGenetic Steroid Disorders

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 : Anna Biason-Lauber,Amit V. Pandey,Walter L. Miller,Christa E. Flück
  • Publisher : Elsevier Inc. Chapters
  • Release : 22 August 2013
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

The Impact of Genetic Steroid Disorders on Human Fertility

The Impact of Genetic Steroid Disorders on Human Fertility
  • Author : Anonim
  • Publisher : Unknown Publisher
  • Release : 08 March 2021
GET THIS BOOKThe Impact of Genetic Steroid Disorders on Human Fertility

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

Genetic Steroid Disorders

Genetic Steroid Disorders
  • Author : David E. Reichman,Zev Rosenwaks
  • Publisher : Elsevier Inc. Chapters
  • Release : 22 August 2013
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 : 22 August 2013
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 : Phyllis W. Speiser
  • Publisher : Elsevier Inc. Chapters
  • Release : 22 August 2013
GET THIS BOOKGenetic Steroid Disorders

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

Genetics of Steroid Biosynthesis and Function

Genetics of Steroid Biosynthesis and Function
  • Author : J.I. Mason
  • Publisher : CRC Press
  • Release : 23 May 2002
GET THIS BOOKGenetics of Steroid Biosynthesis and Function

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

Noonan Syndrome

Noonan Syndrome
  • Author : Amrit P.S. Bhangoo
  • Publisher : Academic Press
  • Release : 16 May 2019
GET THIS BOOKNoonan Syndrome

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

Sex Hormones in Neurodegenerative Processes and Diseases

Sex Hormones in Neurodegenerative Processes and Diseases
  • Author : Gorazd Drevensek
  • Publisher : BoD – Books on Demand
  • Release : 02 May 2018
GET THIS BOOKSex Hormones in Neurodegenerative Processes and Diseases

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

Inborn Metabolic Diseases

Inborn Metabolic Diseases
  • Author : John Fernandes,Jean-Marie Saudubray,Georges van den Berghe
  • Publisher : Springer Science & Business Media
  • Release : 14 March 2013
GET THIS BOOKInborn Metabolic Diseases

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

Fetal Therapy

Fetal Therapy
  • Author : Mark I. Evans,L.D. Platt,F. de la Cruz
  • Publisher : CRC Press
  • Release : 15 February 2001
GET THIS BOOKFetal Therapy

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

Understanding Differences and Disorders of Sex Development (DSD)

Understanding Differences and Disorders of Sex Development (DSD)
  • Author : O. Hiort,S.F. Ahmed
  • Publisher : Karger Medical and Scientific Publishers
  • Release : 15 September 2014
GET THIS BOOKUnderstanding Differences and Disorders of Sex Development (DSD)

Ten years ago a group of experts assembled in Chicago to develop a consensus on the management of conditions previously described as intersex. The consequences of this consensus have been far reaching, including a change in nomenclature, the development of greater collaboration across geographical boundaries, and a move towards greater involvement of patients and parents. Moreover, an international registry was established, as well as research and clinical networks. This book brings together a thorough overview on all these topics. Furthermore,