Congenital adrenal hyperplasia overview: Difference between revisions
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{{Congenital adrenal hyperplasia}} | {{Congenital adrenal hyperplasia}} | ||
{{CMG}}; {{ | {{CMG}}; '''Associate Editor-In-Chief:''' {{CZ}} | ||
==Overview== | ==Overview== | ||
Congenital adrenal hyperplasia (CAH) refers to any of several autosomal recessive conditions resulting from biochemical paths of the steroidogenesis of cortisol from cholesterol by the adrenal | '''Congenital adrenal hyperplasia''' ('''CAH''') refers to any of several [[autosomal]] [[recessive]] conditions resulting from biochemical paths of the [[steroidogenesis]] of [[cortisol]] from [[cholesterol]] by the [[adrenal gland]]s. | ||
Most of these conditions involve greater or lesser production of [[sex steroid]]s and can alter development of [[primary sex characteristic|primary]] or [[secondary sex characteristic]]s in affected infants, children, and adults. Only a small minority of people with CAH can be said to have an [[intersex]] condition, but this attracted American public attention in the late 1990s and many accounts of varying accuracy have appeared in the popular media. Approximately 95% of cases of CAH are due to [[congenital adrenal hyperplasia due to 21-hydroxylase deficiency|21-hydroxylase deficiency]]. | |||
Prenatal diagnosis can be made in both of these disorders by chorionic villous sampling, but this can only be done at 8-10 weeks. In order to prevent the deleterious effect of excess androgens on genital (and brain!) development, therapy must be started earlier. This is most often considered if there is an affected sibling. Treatment is dexamethasone, which is not degraded by the placenta, but is associated with significant maternal weight gain, hypertension, and edema. | |||
==References== | |||
{{Reflist|2}} | |||
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[[Category:Disease]] | |||
[[Category:Pediatrics]] | |||
[[Category:Endocrinology]] | |||
[[Category:Genetic disorders]] | |||
[[Category:Intersexuality]] | |||
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Latest revision as of 15:32, 26 July 2017
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Congenital adrenal hyperplasia main page |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor-In-Chief: Cafer Zorkun, M.D., Ph.D. [2]
Overview
Congenital adrenal hyperplasia (CAH) refers to any of several autosomal recessive conditions resulting from biochemical paths of the steroidogenesis of cortisol from cholesterol by the adrenal glands. Most of these conditions involve greater or lesser production of sex steroids and can alter development of primary or secondary sex characteristics in affected infants, children, and adults. Only a small minority of people with CAH can be said to have an intersex condition, but this attracted American public attention in the late 1990s and many accounts of varying accuracy have appeared in the popular media. Approximately 95% of cases of CAH are due to 21-hydroxylase deficiency.
Prenatal diagnosis can be made in both of these disorders by chorionic villous sampling, but this can only be done at 8-10 weeks. In order to prevent the deleterious effect of excess androgens on genital (and brain!) development, therapy must be started earlier. This is most often considered if there is an affected sibling. Treatment is dexamethasone, which is not degraded by the placenta, but is associated with significant maternal weight gain, hypertension, and edema.