Genetic Steroid Disorders

This book PDF is perfect for those who love Science genre, written by Maria I. New and published by Academic Press which was released on 14 June 2023 with total hardcover pages 470. You could read this book directly on your devices with pdf, epub and kindle format, check detail and related Genetic Steroid Disorders books below.

Genetic Steroid Disorders
Author : Maria I. New
File Size : 43,6 Mb
Publisher : Academic Press
Language : English
Release Date : 14 June 2023
ISBN : 9780128214251
Pages : 470 pages
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Genetic Steroid Disorders by Maria I. New Book PDF Summary

Genetic Steroid Disorders, Second Edition targets adult and pediatric endocrinologists, clinical geneticists, genetic counselors, reproductive endocrinologists, neonatologists, urologists, and psychoendocrinologists. It is designed to assist these specialists in the diagnosis and treatment of steroid disorders. This revision includes a new chapter on "Gonadotropins, Obesity and Bone" and new research on non-invasive prenatal diagnosis with cell-free DNA. Chapters are thoroughly updated covering steroid disorders, the genetic bases for the disorder and case presentations, This definitive reference belongs in every medical library! Presents a comprehensive, translational look at all aspects of genetic steroid disorders in one reference work Provides a common language for endocrinologists, geneticists, molecular pathologists, and genetic counselors to discuss and diagnose genetic steroid disorders Saves clinicians and researchers time in quickly accessing the very latest details on genetic tests and diagnoses as opposed to searching through thousands of journal articles Highlights significant discoveries with clinical relevance, presenting 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, Second Edition targets adult and pediatric endocrinologists, clinical geneticists, genetic counselors, reproductive endocrinologists, neonatologists, urologists, and psychoendocrinologists. It is designed to assist these specialists in the diagnosis and treatment of steroid disorders. This revision includes a new chapter on "Gonadotropins, Obesity and Bone" and new research on

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Genetic Steroid Disorders

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

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Genetic 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

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Genetic 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

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Genetic 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

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Genetic Steroid Disorders

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,

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Genetic Steroid Disorders

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

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Genetic Steroid Disorders

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

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