Prenatal Diagnosis and Treatment of Congenital Adrenal Hyperplasia
نویسندگان
چکیده
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. Copyright © 2007 S. Karger AG, Basel Published online: October 17, 2006 HORMONE RESEARCH Maria I. New, M.D. Mount Sinai School of Medicine One Gustave L. Levy Place Box 1198, New York, NY 10029 (USA) Tel. +1 212 241 7847, Fax +1 212 241 5405, E-Mail [email protected] © 2007 S. Karger AG, Basel Accessible online at: www.karger.com/hre This research is supported in part under NICHD award R37
منابع مشابه
CONGENITAL ADRENAL HYPERPLASIA IN NORTH•EAST OF IRAN: A REVIEW OF 47 PATIENTS AND THE ROLE OF PARENTAL CONSANGUINITY IN THE OCCURRENCE OF DISEASE
In this study the clinical and epidemiological characteristics of congenital adrenal hyperplasia were evaluated prospectively in 47 patients admitted in Imam Reza Hospital in Mashhad during a 4 year period. 21-hydroxylase deficiency was present in 42 patients (89.3%), the simple virilizing form in 6 and the salt-losing form in 36 of them. 11b hydroxylase deficiency was present in 5 patient...
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Congenital adrenal hyperplasia (CAH) applies to a group of inherited disorders caused by an enzyme deficiency in steroid biosynthesis. The most common form of CAH is 21-hydroxylase deficiency (21-OHD), which in its severe form can cause genital ambiguity in females. Affected females experience virilization both physically and psychologically. Steroid 21-OHD can be diagnosed in utero through mol...
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Congenital adrenal hyperplasia is a general term applied to a group of several inherited enzymatic defects of cortisol biosynthesis. The most frequent cause of this disease is by far 21-hydroxylase deficiency which is considered one of the commonest metabolic disorders. The degree to which the activity of this enzyme is diminished correlates with the severity of congenital adrenal hyperplasia a...
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