The Experts below are selected from a list of 267 Experts worldwide ranked by ideXlab platform
Maria I. New - One of the best experts on this subject based on the ideXlab platform.
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Ancient History of Congenital Adrenal Hyperplasia
Endocrine development, 2010Co-Authors: Maria I. NewAbstract:Although there are many erudite reports on the history of endocrinology and endocrine disorders, the history of Congenital Adrenal Hyperplasia has not been published. I have tried to review ancient as well as modern history of CAH.
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Steroid 11beta- hydroxylase deficiency Congenital Adrenal Hyperplasia.
Trends in endocrinology and metabolism: TEM, 2008Co-Authors: Saroj Nimkarn, Maria I. NewAbstract:Congenital Adrenal Hyperplasia due to steroid 11beta-hydroxylase deficiency is a genetic disorder of steroidogenesis, transmitted as an autosomal recessive trait. It is associated with low renin hypertension, hypokalemia, hyperandrogenemia and genital ambiguity in affected females. Mutations in the CYP11B1 gene, causing 11beta-hydroxylase deficiency in the zona fasciculata in the Adrenal cortex, have been identified. The indicators of Congenital Adrenal Hyperplasia caused by 11beta-hydroxylase deficiency, include increased serum concentrations of desoxycorticosterone, 11 deoxycortisol and delta4-androstenedione, and suppressed plasma renin concentrations. The disorder is treated by administration of glucocorticoids.
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Prenatal diagnosis and treatment of Congenital Adrenal Hyperplasia.
Hormone research, 2006Co-Authors: Saroj Nimkarn, Maria I. NewAbstract:Congenital Adrenal Hyperplasia is a group of inherited disorders caused by an enzyme deficiency in steroid biosynthesis. The most common form of Congenital Adrenal Hyperplasia is 21-hydroxylase deficiency, which in its severe form can cause genital ambiguity in females. Steroid 21-hydroxylase deficiency can be diagnosed in utero through molecular genetic analysis of fetal DNA. Prenatal treatment successfully reduces genital ambiguity, and the subsequent problems of sex misassignment and gender confusion. Data from current studies show that prenatal diagnosis and treatment are safe for the mother and the fetus. The evidence also suggests that it is safe over the long term, but all subjects exposed to dexamethasone treatment during embryonic and fetal life should have their physical, cognitive and emotional developments recorded.
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An Update of Congenital Adrenal Hyperplasia
Annals of the New York Academy of Sciences, 2004Co-Authors: Maria I. NewAbstract:Publisher Summary Congenital Adrenal Hyperplasia (CAH) is a family of disorders of Adrenal steroidogenesis resulting from an inherited deficiency of one of several enzymes necessary for normal steroid synthesis. This chapter describes the recent advances in Congenital Adrenal Hyperplasia. These advances have come from the interdisciplinary collaboration of embryologists, teratologists, enzymologists, immunogeneticists, population geneticists, steroid endocrinologists, and gender psychologists. The chapter describes asimplified scheme of Adrenal steroidogenesis. It provides an overview of the additional evidence that supports the concept that the Adrenal fasciculate and glomerulosa function as two separate glands. This has been gained from the recent study of patients with 21-hydroxylase deficiency. New data shows that in CAH, there is a 21-hydroxylation defect in the zona fasciculata of simple virilizers and salt wasters, whereas zona glomerulosa is defective in salt wasters and not in simple virilizers. The data suggest that there is one enzyme involved in the 21-hydroxylation of the 17-hydroxy and 17-deoxy pathways of Adrenal steroidogenesis in zona fasciculata.
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Steroid 21-hydroxylase deficiency (Congenital Adrenal Hyperplasia)
Trends in Endocrinology and Metabolism, 1995Co-Authors: Saroj Nimkarn, Maria I. NewAbstract:Congenital Adrenal Hyperplasia due to steroid 11β-hydroxylase deficiency is a genetic disorder of steroidogenesis, transmitted as an autosomal recessive trait. It is associated with low renin hypertension, hypokalemia, hyperandrogenemia and genital ambiguity in affected females. Mutations in the CYP11B1 gene, causing 11β-hydroxylase deficiency in the zona fasciculata in the Adrenal cortex, have been identified. The indicators of Congenital Adrenal Hyperplasia caused by 11β-hydroxylase deficiency, include increased serum concentrations of desoxycorticosterone, 11 deoxycortisol and δ4-androstenedione, and suppressed plasma renin concentrations. The disorder is treated by administration of glucocorticoids.
Saroj Nimkarn - One of the best experts on this subject based on the ideXlab platform.
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Steroid 11beta- hydroxylase deficiency Congenital Adrenal Hyperplasia.
Trends in endocrinology and metabolism: TEM, 2008Co-Authors: Saroj Nimkarn, Maria I. NewAbstract:Congenital Adrenal Hyperplasia due to steroid 11beta-hydroxylase deficiency is a genetic disorder of steroidogenesis, transmitted as an autosomal recessive trait. It is associated with low renin hypertension, hypokalemia, hyperandrogenemia and genital ambiguity in affected females. Mutations in the CYP11B1 gene, causing 11beta-hydroxylase deficiency in the zona fasciculata in the Adrenal cortex, have been identified. The indicators of Congenital Adrenal Hyperplasia caused by 11beta-hydroxylase deficiency, include increased serum concentrations of desoxycorticosterone, 11 deoxycortisol and delta4-androstenedione, and suppressed plasma renin concentrations. The disorder is treated by administration of glucocorticoids.
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Prenatal diagnosis and treatment of Congenital Adrenal Hyperplasia.
Hormone research, 2006Co-Authors: Saroj Nimkarn, Maria I. NewAbstract:Congenital Adrenal Hyperplasia is a group of inherited disorders caused by an enzyme deficiency in steroid biosynthesis. The most common form of Congenital Adrenal Hyperplasia is 21-hydroxylase deficiency, which in its severe form can cause genital ambiguity in females. Steroid 21-hydroxylase deficiency can be diagnosed in utero through molecular genetic analysis of fetal DNA. Prenatal treatment successfully reduces genital ambiguity, and the subsequent problems of sex misassignment and gender confusion. Data from current studies show that prenatal diagnosis and treatment are safe for the mother and the fetus. The evidence also suggests that it is safe over the long term, but all subjects exposed to dexamethasone treatment during embryonic and fetal life should have their physical, cognitive and emotional developments recorded.
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Steroid 21-hydroxylase deficiency (Congenital Adrenal Hyperplasia)
Trends in Endocrinology and Metabolism, 1995Co-Authors: Saroj Nimkarn, Maria I. NewAbstract:Congenital Adrenal Hyperplasia due to steroid 11β-hydroxylase deficiency is a genetic disorder of steroidogenesis, transmitted as an autosomal recessive trait. It is associated with low renin hypertension, hypokalemia, hyperandrogenemia and genital ambiguity in affected females. Mutations in the CYP11B1 gene, causing 11β-hydroxylase deficiency in the zona fasciculata in the Adrenal cortex, have been identified. The indicators of Congenital Adrenal Hyperplasia caused by 11β-hydroxylase deficiency, include increased serum concentrations of desoxycorticosterone, 11 deoxycortisol and δ4-androstenedione, and suppressed plasma renin concentrations. The disorder is treated by administration of glucocorticoids.
Selma F. Witchel - One of the best experts on this subject based on the ideXlab platform.
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Nonclassic Congenital Adrenal Hyperplasia.
Current opinion in endocrinology diabetes and obesity, 2012Co-Authors: Selma F. WitchelAbstract:Purpose of reviewLate-onset or nonclassic Congenital Adrenal Hyperplasia (NCAH) due to 21-hydroxylase deficiency is one of the most common autosomal recessive disorders. Reported prevalence ranges from 1 in 30 to 1 in 1000. Affected individuals typically present due to signs and symptoms of androgen
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Congenital Adrenal Hyperplasia
Journal of pediatric and adolescent gynecology, 2011Co-Authors: Selma F. Witchel, Ricardo AzzizAbstract:The Congenital Adrenal Hyperplasias comprise a family of autosomal recessive disorders that disrupt Adrenal steroidogenesis. The most common form is due to 21-hydroxylase deficiency associated with mutations in the 21-hydroxylase gene, which is located at chromosome 6p21. The clinical features associated with each disorder of Adrenal steroidogenesis represent a clinical spectrum that reflect the consequences of the specific mutations. Treatment goals include normal linear growth velocity and "on-time" puberty in affected children. For adolescent and adult women, treatment goals include regularization of menses, prevention of progression of hirsutism, and preservation of fertility. For adolescent and adult men, prevention and early treatment of testicular Adrenal rest tumors is beneficial. In this article key aspects regarding pathophysiology, diagnosis, and treatment of Congenital Adrenal Hyperplasia are reviewed.
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Nonclassic Congenital Adrenal Hyperplasia
International Journal of Pediatric Endocrinology, 2010Co-Authors: Selma F. Witchel, Ricardo AzzizAbstract:Nonclassic Congenital Adrenal Hyperplasia (NCAH) due to P450c21 (21-hydroxylase deficiency) is a common autosomal recessive disorder. This disorder is due to mutations in the CYP21A2 gene which is located at chromosome 6p21. The clinical features predominantly reflect androgen excess rather than Adrenal insufficiency leading to an ascertainment bias favoring diagnosis in females. Treatment goals include normal linear growth velocity and "on-time" puberty in affected children. For adolescent and adult women, treatment goals include regularization of menses, prevention of progression of hirsutism, and fertility. This paper will review key aspects regarding pathophysiology, diagnosis, and treatment of NCAH.
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Congenital Adrenal Hyperplasia.
Dermatologic therapy, 2008Co-Authors: Cem Demirci, Selma F. WitchelAbstract:: The Congenital Adrenal Hyperplasias are a group of autosomal recessive disorders associated with impaired steroidogenesis. Several types of the Congenital Adrenal Hyperplasias are associated with decreased cortisol production and excessive Adrenal sex steroid secretion. Congenital Adrenal Hyperplasia due to 21-hydroxylase deficiency is the most common and prototypic example of this group of disorders. Herein, we review the clinical features, pathophysiology, molecular genetics, and treatment of 21-hydroxylase deficiency. There is also a brief discussion of other steroidogenic enzyme defects that are associated with clinical features due to excessive androgen secretion.
U.À. Strupeneva - One of the best experts on this subject based on the ideXlab platform.
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Sonography in prenatal diagnosis of Congenital Adrenal Hyperplasia
prenatal diagnosis, 2018Co-Authors: U.À. StrupenevaAbstract:The case of prenatal ultrasound diagnosis of Congenital Adrenal Hyperplasia in the fetus in third trimester of gestation, verified after birth, is presented.
Selma F Witchel - One of the best experts on this subject based on the ideXlab platform.
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prenatal treatment of Congenital Adrenal Hyperplasia risks outweigh benefits
American Journal of Obstetrics and Gynecology, 2013Co-Authors: Walter L Miller, Selma F WitchelAbstract:Prenatal treatment of Congenital Adrenal Hyperplasia by administering dexamethasone to a woman presumed to be carrying an at-risk fetus has been described as safe and effective in several reports. A review of data from animal experimentation and human trials indicates that first-trimester dexamethasone decreases birthweight; affects renal, pancreatic beta cell, and brain development; increases anxiety; and predisposes to adult hypertension and hyperglycemia. In human studies, first-trimester dexamethasone is associated with orofacial clefts, decreased birthweight, poorer verbal working memory, and poorer self-perception of scholastic and social competence. Numerous medical societies have cautioned that prenatal treatment of Congenital Adrenal Hyperplasia with dexamethasone should only be done in prospective clinical research settings with institutional review board approval, and therefore is not appropriate for routine community practice.