Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency

If one child in a family is already affected by congenital adrenal hyperplasia, the HLA haplotypes of the parents and the affected child should be determined. Subsequent pregnancies can then be accurately evaluated for congenital adrenal hyperplasia by HLA haplotype analysis of chorionic villus or amniotic cells. 2 , 3 In families at risk (., one or both parents affected by some form of congenital adrenal hyperplasia) but with no affected children, congenital adrenal hyperplasia can be diagnosed during pregnancy by DNA analysis of chorionic villus or amniotic fluid cells or by measuring 17-hydroxy steroids in the amniotic fluid. 10 All women with fetuses at risk for congenital adrenal hyperplasia should receive dexamethasone in a dosage of mg per kg per day, divided into two or three daily doses.

If your baby is diagnosed with CAH in utero, your doctor might suggest you take a corticosteroid while you’re pregnant. This type of medication is often used to treat inflammation, but it can also limit the amount of androgens produced by your baby’s adrenal glands. This can help your baby develop normal genitals if she’s a girl, and if your baby is a boy, your doctor will use a lower dose of the same medication for a shorter period of time. This method isn’t widely used because the long-term safety of it for children isn’t clear. It can also cause unpleasant and potentially dangerous side effects in pregnant women, including high blood pressure and mood swings.

Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency

congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency

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