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Genetic Steroid Disorders

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Genetic Steroid Disorders

Genetic Steroid Disorders Book
Author : Maria I. New,Oksana Lekarev,Alan Parsa,Tony T. Yuen,Bert O'Malley,Gary D Hammer
Publisher : Academic Press
Release : 2013-08-22
ISBN : 0123914671
Language : En, Es, Fr & De

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Book Description :

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 Book
Author : Heino F.L. Meyer-Bahlburg
Publisher : Elsevier Inc. Chapters
Release : 2013-08-22
ISBN : 0128072989
Language : En, Es, Fr & De

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Book Description :

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 Book
Author : Amrit Bhangoo,Svetlana Ten
Publisher : Elsevier Inc. Chapters
Release : 2013-08-22
ISBN : 0128073071
Language : En, Es, Fr & De

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Book Description :

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 Book
Author : Karen Lin-Su,Oksana Lekarev,Maria I. New
Publisher : Elsevier Inc. Chapters
Release : 2013-08-22
ISBN : 0128072806
Language : En, Es, Fr & De

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Book Description :

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 Book
Author : Walter L. Miller,Zoran S. Gucev
Publisher : Elsevier Inc. Chapters
Release : 2013-08-22
ISBN : 0128072865
Language : En, Es, Fr & De

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Book Description :

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.

Exam Prep for Genetic Steroid Disorders

Exam Prep for  Genetic Steroid Disorders Book
Author : Anonim
Publisher : Unknown
Release : 2021-05-14
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Download Exam Prep for Genetic Steroid Disorders book written by , available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Genetic Steroid Disorders

Genetic Steroid Disorders Book
Author : Charles Sultan,Pascal Philibert,Laura Gaspari,Francoise Audran,Laurent Maimoun,Nicolas Kalfa,Françoise Paris
Publisher : Elsevier Inc. Chapters
Release : 2013-08-22
ISBN : 0128072911
Language : En, Es, Fr & De

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Book Description :

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.

Genetic Steroid Disorders

Genetic Steroid Disorders Book
Author : Anna Biason-Lauber,Amit V. Pandey,Walter L. Miller,Christa E. Flück
Publisher : Elsevier Inc. Chapters
Release : 2013-08-22
ISBN : 0128072903
Language : En, Es, Fr & De

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Book Description :

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 Book
Author : Anonim
Publisher : Unknown
Release : 2017
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

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 Book
Author : David E. Reichman,Zev Rosenwaks
Publisher : Elsevier Inc. Chapters
Release : 2013-08-22
ISBN : 0128073020
Language : En, Es, Fr & De

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Book Description :

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 Book
Author : Nicole Reisch,Ursula Kuhnle
Publisher : Elsevier Inc. Chapters
Release : 2013-08-22
ISBN : 0128073047
Language : En, Es, Fr & De

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Book Description :

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 Book
Author : Phyllis W. Speiser
Publisher : Elsevier Inc. Chapters
Release : 2013-08-22
ISBN : 0128073055
Language : En, Es, Fr & De

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Book Description :

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 Biochemical Disorders

Genetic Biochemical Disorders Book
Author : Philip F. Benson,Anthony H. Fensom
Publisher : Oxford University Press, USA
Release : 1985
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Download Genetic Biochemical Disorders book written by Philip F. Benson,Anthony H. Fensom, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Genetic Disorders and the Fetus

Genetic Disorders and the Fetus Book
Author : Aubrey Milunsky
Publisher : Unknown
Release : 1992
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

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.

Genetic Disorders of the Endocrine Glands

Genetic Disorders of the Endocrine Glands Book
Author : David L. Rimoin,R. Neil Schimke
Publisher : Unknown
Release : 1971
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Download Genetic Disorders of the Endocrine Glands book written by David L. Rimoin,R. Neil Schimke, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Excerpta medica Section 22 Human genetics

Excerpta medica  Section 22  Human genetics Book
Author : Anonim
Publisher : Unknown
Release : 1991
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Download Excerpta medica Section 22 Human genetics book written by , available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Immunogenetics of Endocrine Disorders

Immunogenetics of Endocrine Disorders Book
Author : Nadir R. Farid
Publisher : Unknown
Release : 1988
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Download Immunogenetics of Endocrine Disorders book written by Nadir R. Farid, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Genetic Disorders of the Skin

Genetic Disorders of the Skin Book
Author : Joseph C. Alper,José A. Juanes,Bernabé Santelices G.,Jack Lamont McLachlan
Publisher : Year Book Medical Pub
Release : 1991
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Download Genetic Disorders of the Skin book written by Joseph C. Alper,José A. Juanes,Bernabé Santelices G.,Jack Lamont McLachlan, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Metabolic Endocrine and Genetic Disorders of Children

Metabolic  Endocrine  and Genetic Disorders of Children Book
Author : Vincent C. Kelley
Publisher : Unknown
Release : 1974
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Download Metabolic Endocrine and Genetic Disorders of Children book written by Vincent C. Kelley, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Genetics of Steroid Biosynthesis and Function

Genetics of Steroid Biosynthesis and Function Book
Author : J.I. Mason
Publisher : CRC Press
Release : 2002-05-23
ISBN : 0203301498
Language : En, Es, Fr & De

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Book Description :

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