[Prenatal treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. 9 treated pregnancies].

Annales de pediatrie Pub Date : 1993-09-01
J L Nivelon, M Chouchane, M G Forest, Y Morel, F Huet, A Nivelon-Chevallier, C François
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Abstract

Prenatal treatment based on administration of dexamethasone to the mother during pregnancy was initiated early during nine pregnancies with a high risk of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. The purpose of this treatment was to prevent fetal virilization by reducing production of androgens by the adrenal glands. Prenatal diagnosis was achieved by comparing amniotic fluid cell HLA genotypes and more recently by subjecting trophoblasts to molecular genetic studies. Together with prenatal determination of fetal sex, this allowed to determine that only two female fetuses were affected. Efficacy of continued prenatal treatment in these two cases was good in one case and mediocre in the other. The treatment was well tolerated by the mothers and fetuses.

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21-羟化酶缺乏所致先天性肾上腺增生的产前治疗。[治疗妊娠]。
在9例因21-羟化酶缺乏症导致先天性肾上腺增生的高危妊娠中,孕妇在妊娠早期就开始使用地塞米松进行产前治疗。这种治疗的目的是通过减少肾上腺雄激素的产生来防止胎儿男性化。产前诊断是通过比较羊水细胞HLA基因型和最近通过对滋养细胞进行分子遗传学研究来实现的。加上胎儿性别的产前测定,这可以确定只有两个女性胎儿受到影响。继续产前治疗1例效果良好,1例效果一般。母亲和胎儿都能很好地耐受这种治疗。
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