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Genetic Steroid Disorders
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
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
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 steroidoge...
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 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
Glucocorticoid-remediable aldosteronism (GRA) is a heritable form of primary hyperaldosteronism. As a result of a chimeric gene duplication, aldosterone synthase is expressed in the cortisol-producing zona fasciculata of the adrenal cortex and is regulated by adrenocorticotropin (ACTH). Clinically, GRA is characterized by early onset of hypertension, which may be severe and refractory to standard therapies. In the absence of treatment with diuretics, hypokalemia is uncommon. GRA is associated with a high prevalence of intracranial aneurysms and hemorrhagic stroke. Diagnostic testing for the presence of the chimeric gene is available. The mainstay of treatment is glucocorticoid suppression of ACTH, and alternatives include mineralocorticoid receptor antagonism.
Genetic Steroid Disorders
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
Surgical treatment of congenital adrenal hyperplasia has undergone dramatic evolution over the past 30 years. This chapter will explore current reconstructive techniques and historic as well as current surgical outcomes. A brief description of surgical technique and its evolution will be described, followed by an analysis of surgical outcomes. The chapter will conclude with a discussion regarding current controversies regarding timing and technique of surgical correction.
Genetic 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
Cushing disease (CD), the clinical manifestation of excess endogenous glucocorticoids derived from the adrenal glands, is caused by increased ACTH secretion from pituitary corticotroph adenomas. Cell signaling, tumor suppressor genes, and cell cycle regulators are implicated in the pathogenesis of ACTH-secreting tumors, as well as some rare familial syndromes. Tumors typically present clinically as microadenomas caused by effects of excess glucocorticoids and rarely as macroadenomas owing to pituitary compressive symptoms. Discovery of novel treatment options is challenging, especially since patient numbers are limited. Accordingly, animal models recapitulating human CD are ideal to study pituitary corticotroph tumor pathogenesis.
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 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).
