Prenatal treatment of congenital adrenal hyperplasia

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Prenatal Diagnosis and Treatment of Congenital Adrenal Hyperplasia

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 treatmen...

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Noninvasive Prenatal Diagnosis of Congenital Adrenal Hyperplasia.

A major hallmark of classical congenital adrenal hyperplasia (CAH) is genital ambiguity noted at birth in affected females, which leads to psychological and psychosexual issues in adult life. Attempts to correct genital ambiguity through surgical intervention have been partially successful. Fetal hyperandrogenemia and genital ambiguity have been shown to be preventable by prenatal administratio...

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Prenatal Dexamethasone for Congenital Adrenal Hyperplasia

Following extensive examination of published and unpublished materials, we provide a history of the use of dexamethasone in pregnant women at risk of carrying a female fetus affected by congenital adrenal hyperplasia (CAH). This intervention has been aimed at preventing development of ambiguous genitalia, the urogenital sinus, tomboyism, and lesbianism. We map out ethical problems in this histo...

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Monitoring treatment in congenital adrenal hyperplasia.

We report results of monitoring treatment in 41 patients with congenital adrenal hyperplasia controlled over 0.3-13.1 years using standard auxological techniques alone. Doses of glucocorticoid (15-25 mg/m2/day) and mineralocorticoid (0.15 mg/m2/day) replacement were determined initially using biochemical indices and thereafter adjusted according to surface area. Monitoring was solely directed a...

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Dexamethasone treatment for congenital adrenal hyperplasia.

Ten patients with congenital adrenal hyperplasia (three males, seven females; aged 12-29 years) had their usual glucocorticoid treatment changed to dexamethasone in three crossover dosage regimens. A starting dose of 5 micrograms/kg/day is suggested but as no one dose regimen resulted in adequate control the timing of the dose must be decided for each patient.

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ژورنال

عنوان ژورنال: European Journal of Endocrinology

سال: 2004

ISSN: 0804-4643,1479-683X

DOI: 10.1530/eje.0.151u063