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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 : Maria I. New,Bert O'Malley,Gary D. Hammer,Oksana Lekarev,Alan Parsa,Mone Zaidi,Tony T. Yuen,Ahmed Khattab
Publisher : Academic Press
Release : 2023-02-01
ISBN : 0128214252
Language : En, Es, Fr & De

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Book Description :

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 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 : Christa E. Flück,Amit V. Pandey
Publisher : Elsevier Inc. Chapters
Release : 2013-08-22
ISBN : 0128072857
Language : En, Es, Fr & De

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Book Description :

Cytochrome P450 oxidoreductase (POR) is an enzyme that is essential for multiple metabolic processes; chiefly among them are reactions catalyzed by cytochrome P450 proteins for metabolism of steroid hormones, drugs, and xenobiotics. Mutations in POR cause a complex set of disorders that often resemble defects in steroid metabolizing enzymes 17-hydroxylase, 21-hydroxylase, and aromatase. Since the initial reports of POR mutations in 2004, more than 70 different mutations and polymorphisms in the POR gene have been identified and tested for their effect on activities of several steroid and drug metabolizing P450 proteins. Mutations in POR may have variable effects on different P450 partner proteins depending on the location of the mutation. The POR mutations that disrupt the binding of cofactors have a negative impact on all partner proteins, while mutations causing subtle structural changes may lead to altered interaction with partner proteins and the overall effect may be different for each partner.

Genetic Steroid Disorders

Genetic Steroid Disorders Book
Author : David W. Russell,Jean D. Wilson
Publisher : Elsevier Inc. Chapters
Release : 2013-08-22
ISBN : 012807289X
Language : En, Es, Fr & De

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Book Description :

Loss-of-function mutations in the steroid 5α-reductase 2 gene (SRD5A2) cause a disorder of male sexual differentiation in which the prostate does not form and external genitalia develop along female lines. Failure to synthesize dihydrotestosterone in fetal tissues that give rise to the male urogenital tract underlies the phenotype that characterizes this disorder. Studies of the SRD5A2 gene and its encoded enzyme at the molecular, biochemical, and endocrinological levels established the crucial role of dihydrotestosterone in formation of the male phenotype and in many other androgen actions and led to the development of drugs for the treatment of prostatic disease.

Genetic Steroid Disorders

Genetic Steroid Disorders Book
Author : Yves Morel,Florence Roucher,Ingrid Plotton,Jacques Simard,Mauricio Coll
Publisher : Elsevier Inc. Chapters
Release : 2013-08-22
ISBN : 0128072830
Language : En, Es, Fr & De

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Book Description :

The transformation of Δ5-3β-hydroxysteroids into the corresponding Δ4-3-keto-steroids is an essential step for the biosynthesis of all classes of active steroids: progesterone, mineralocorticoids, glucocorticoids, androgens, and estrogens. These steroid hormones play a crucial role in the differentiation, development, growth, and physiological function of most human tissues. The 3β-HSD deficiency (OMIM +201810), transmitted in an autosomic recessive disorder, is characterized by varying degrees of salt wasting; in genetic males, fetal testicular 3ß-HSD deficiency causes an undervirilized male genitalia (male pseudohermaphroditism); females exhibit either normal sexual differentiation or mild virilization.

Genetic Steroid Disorders

Genetic Steroid Disorders Book
Author : Berenice B. Mendonca,Elaine M.F. Costa,Marlene Inacio,Ari A. Oliveira Junior,Regina M. Martin,Mirian Y. Nishi,Aline Z. Machado,Filomena Marino Carvalho,Francisco Denes Tibor,Sorahia Domenice
Publisher : Elsevier Inc. Chapters
Release : 2013-08-22
ISBN : 0128072881
Language : En, Es, Fr & De

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Book Description :

17β-hydroxysteroid dehydrogenase 3 deficiency (17β-HSD3) consists of a defect in the last phase of steroidogenesis, in which androstenedione is converted into testosterone and estrone into estradiol. Patients present female-like or with ambiguous genitalia at birth and most affected males are raised as females. Virilization in subjects with 17β-HSD3 deficiency occurs at the time of puberty and almost half change to be males. Maintenance of the testes in patients raised male is safe and recommended, except when the testes cannot be positioned inside the scrotum. The phenotype of 46,XY disorders of sex development (DSD) owing to 17β-HSD3 deficiency is extremely variable and is clinically indistinguishable from other causes of 46,XY DSD such as partial androgen insensitivity syndrome and 5α-reductase 2 deficiency. Laboratory diagnosis is based on elevated serum levels of androstenedione and estrone and low levels of testosterone and estradiol, resulting in elevated androstenedione:testosterone and estrone:estradiol ratios, indicating an impairment of the conversion of 17-keto into 17-hydroxysteroids. The disorder is due to homozygous or compound heterozygous mutations in the HSD17B3 gene that encodes the 17β-HSD3 isoenzyme. Molecular genetic testing confirms the diagnosis and provides the orientation for genetic counseling. Our proposal in this article is to review the reported and our own cases of 17β-HSD3 deficiency.

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 : Hayk Barseghyan,Eric Vilain
Publisher : Elsevier Inc. Chapters
Release : 2013-08-22
ISBN : 0128072954
Language : En, Es, Fr & De

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Book Description :

Ovotesticular DSDs (OT-DSDs) are disorders of sex development in which both testicular and ovarian tissues are present in the same individual. We review the phenotypic variability of OT-DSDs, their sex chromosome constitution, and their molecular genetics, which remain for most patients, poorly understood.

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.

Genetic Steroid Disorders

Genetic Steroid Disorders Book
Author : Mabel Yau,Saroj Nimkarn
Publisher : Elsevier Inc. Chapters
Release : 2013-08-22
ISBN : 012807292X
Language : En, Es, Fr & De

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Book Description :

Apparent mineralocorticoid excess (AME) is a rare inherited form of hypertension caused by 11β-hydroxysteroid dehydrogenase type 2 (11β-HSD) deficiency. The disorder was first described biochemically and hormonally in 1977 by New et al. in a Native American girl with severe hypertension. AME defined an important “pre-receptor” pathway in steroid hormone action and their specificities to the receptor. The exploration of the pathogenesis of AME opened a new area in receptor biology as a result of the demonstration that the specificity of the mineralocorticoid receptor function depends on a metabolic enzyme (11β-HSD2) rather than the receptor itself. The clinical manifestations of AME mimic those of excessive mineralocorticoid activity, but plasma levels of aldosterone and other known mineralocorticoids are not elevated. Affected patients may present with low birthweight, failure to thrive, severe hypertension, hypercalciuria and renal failure. The hypertension is severe, with onset in early childhood.

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.

Genetic Steroid Disorders

Genetic Steroid Disorders Book
Author : Perrin C. White
Publisher : Elsevier Inc. Chapters
Release : 2013-08-22
ISBN : 0128072814
Language : En, Es, Fr & De

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Book Description :

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.

Genetic Steroid Disorders

Genetic Steroid Disorders Book
Author : Sowmya Krishnan,Amy B. Wisniewski
Publisher : Elsevier Inc. Chapters
Release : 2013-08-22
ISBN : 0128072822
Language : En, Es, Fr & De

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Book Description :

Ambiguous genitalia can be associated with disorders of sex development (DSD). DSD occurs when a person is born with discordant genetic, gonadal, or anatomic sex. Here we discuss typical-appearing external genital appearance in unaffected males and females followed by descriptions of ambiguous genitalia in newborns with 46,XY DSD, 46,XX DSD, syndromes associated with multiple congenital anomalies including, but not limited to, ambiguous genitalia, ovotesticular DSD, and mixed gonadal dysgenesis in newborns who possess a Y chromosome. We provide guidance to proceed with a clinical work-up to differentiation between types of DSD that result in ambiguous genitalia at birth. Finally, we discuss how gender assignments are made for newborns with DSD including ambiguous genitalia.

Genetic Steroid Disorders

Genetic Steroid Disorders Book
Author : Antonio M. Lerario,Thomas J. Giordano,Gary D. Hammer
Publisher : Elsevier Inc. Chapters
Release : 2013-08-22
ISBN : 0128073004
Language : En, Es, Fr & De

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Book Description :

Adrenocortical tumors (ACT) are common neoplasms, with a prevalence that increases with age, reaching a peak of 6% after 60 years. Most are benign cortical adenomas (ACA). Their malignant counterparts, adrenocortical carcinomas (ACC), are rare and are usually associated with a dismal prognosis. The genetic basis of adrenocortical tumorigenesis is not completely understood, but is thought to be a multistep process. Over the past two decades many molecular aspects of ACT tumorigenesis have been uncovered, especially after the elucidation of the molecular basis of genetic syndromes of which ACTs are a feature. More recently, genome-wide expression profiles and animal models have provided new insights into the explanation of this complex process. Many of the key genes and pathways have been elucidated and are the current focus of therapeutic intervention. Integrated pangenomic and other global analyses will be done in the coming years and promise to advance our understanding of adrenocortical tumorigenesis to a higher level.

Genetic Steroid Disorders

Genetic Steroid Disorders Book
Author : Yewei Xing,John C. Achermann,Gary D. Hammer
Publisher : Elsevier Inc. Chapters
Release : 2013-08-22
ISBN : 0128072776
Language : En, Es, Fr & De

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Book Description :

The adrenal glands comprise two distinct endocrine organs: the inner medulla and the outer cortex. The inner medulla is made up of neuroectodermal cells derived from the neural crest and produces the catecholamine hormones norepinephrine and epinephrine, which are crucial for stress responses. The outer cortex is derived from the mesoderm and synthesizes steroid hormones that are essential to maintain fluid and electrolyte balance, modulate intermediary metabolism and regulate inflammatory processes. Steroidogenesis in the adrenal cortex is mainly regulated by trophic hormones controlled by the hypothalamus–pituitary endocrine axes. Adrenal organogenesis and development of adult steroidogenesis are carefully orchestrated by action of a number of gene products. Although the pattern of development differs somewhat in diverse primates, the same genes appear to regulate the basic developmental program in all mammalian species. Most basic laboratory research is done in mice, in which prenatal development occurs within a compressed period of approximately 19 days and in which adrenals at birth are considerably less developed than in their human counterparts. This chapter describes the contributions of genes responsible for the proper development of the adrenal cortex, as well as how an understanding of adrenal gland disease provides novel fundamental insights into the regulation of adrenal development and steroidogenesis.

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 Steroid Disorders

Genetic Steroid Disorders Book
Author : Denesy Mancenido,Maria I. New
Publisher : Elsevier Inc. Chapters
Release : 2013-08-22
ISBN : 0128072792
Language : En, Es, Fr & De

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Book Description :

Congenital adrenal hyperplasia (CAH) owing to 21-hydroxylase deficiency (21OHD) is a disorder of adrenal steroidogenesis, which causes virilization of external genitalia in females affected with the severe form of the disease. However, genital ambiguity is preventable with prenatal treatment with dexamethasone during the first trimester. While prenatal treatment has remained largely unchanged since its institution, prenatal diagnosis of CAH has witnessed a number of advancements in the past 50 years. The first successful prenatal diagnosis utilized hormonal measurements of the amniotic fluid. Elevated levels of 17α-hydroxyprogesterone in the amniotic fluid became diagnostic for a fetus affected with the severe form of the disorder. This finding was followed by the discovery of the close linkage between the disease and the HLA complex, which led to HLA linkage studies as a second approach for prenatal diagnosis. Cloning of the CYP21A2 gene ushered in molecular genetic analysis as the third method for prenatal diagnosis. Using polymerase chain reaction (PCR)-based methods to amplify the CYP21A2 active gene, and not the CYP21A1P pseudogene, diagnostic procedures increased in specificity and led to accurate prenatal diagnosis in the first trimester. The advent of non-invasive prenatal diagnosis heralds a new development for prenatal diagnosis of CAH, with the potential for improved safety, earlier detection, and increased accessibility.

Genetic Steroid Disorders

Genetic Steroid Disorders Book
Author : Nathalie Josso,Richard L. Cate,Jean-Yves Picard
Publisher : Elsevier Inc. Chapters
Release : 2013-08-22
ISBN : 0128072962
Language : En, Es, Fr & De

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Book Description :

The persistent Müllerian duct syndrome (PMDS) is characterized by the persistence of Müllerian derivatives in otherwise normally virilized XY individuals. The condition is usually due to a mutation in either the anti-Müllerian hormone (AMH) or the AMH type II receptor (AMHR-II) genes and is transmitted as a recessive autosomal trait. Sixty-five families with AMH mutations and 59 with AMHR-II mutations have been reported to date. Clinical symptoms include cryptorchidism and/or inguinal hernia, and are identical for ligand and receptor mutations. However, the prepubertal serum level of AMH is nearly undetectable in AMH mutations, whereas it is close to normal in receptor mutations. Infertility is the main complication. Construction of molecular models for the AMH and AMHR-II has provided insight into how some mutations affect the biosynthesis and processing of these molecules, and how other mutations affect signal transduction.