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11β-羟化酶缺乏所致先天性肾上腺皮质增生症导致女性生殖器正常的产前诊断与治疗

Prenatal diagnosis and treatment of 11beta-hydroxylase deficiency congenital adrenal hyperplasia resulting in normal female genitalia.

作者信息

Cerame B I, Newfield R S, Pascoe L, Curnow K M, Nimkarn S, Roe T F, New M I, Wilson R C

机构信息

Department of Pediatrics, Weill Medical College of Cornell University, New York, New York 10021, USA.

出版信息

J Clin Endocrinol Metab. 1999 Sep;84(9):3129-34. doi: 10.1210/jcem.84.9.5976.

Abstract

Congenital adrenal hyperplasia (CAH) consists of autosomal recessive disorders of cortisol biosynthesis, which in the majority of cases result from 21-hydroxylase deficiency. Another enzymatic defect causing CAH is 11beta-hydroxylase deficiency. In both forms, the resulting excessive androgen secretion causes genital virilization of the female fetus. For over 10 yr female fetuses affected with 21-hydroxylase deficiency have been safely and successfully prenatally treated with dexamethasone. We report here the first successful prenatal treatment with dexamethasone of an affected female with 11beta-hydroxylase deficiency CAH. The family had two girls affected with 1beta-hydroxylase deficiency born with severe ambiguous genitalia who were both homozygous for the T318M mutation in the CYP11B1 gene, which codes for the 11beta-hydroxylase enzyme. In the third pregnancy in this family, the female fetus was treated in utero by administering dexamethasone to the mother, starting at 5 weeks gestation. The treatment was successful, as the newborn was not virilized and had normal female external genitalia. A second family with two affected sons was also studied in preparation for a future pregnancy. We report a novel 1-bp deletion in codon 394 (R394delta1) in the CYP11B1 gene in this family.

摘要

先天性肾上腺皮质增生症(CAH)是由皮质醇生物合成的常染色体隐性疾病组成,在大多数情况下是由21-羟化酶缺乏引起的。另一种导致CAH的酶缺陷是11β-羟化酶缺乏。在这两种形式中,雄激素分泌过多都会导致女性胎儿生殖器男性化。在超过10年的时间里,患有21-羟化酶缺乏的女性胎儿已通过地塞米松进行了安全且成功的产前治疗。我们在此报告首例用地塞米松成功治疗患有11β-羟化酶缺乏型CAH的患病女性胎儿。该家庭有两个患有1β-羟化酶缺乏的女孩,出生时生殖器严重模糊,她们在编码11β-羟化酶的CYP11B1基因中的T318M突变均为纯合子。在这个家庭的第三次怀孕中,从妊娠5周开始,通过给母亲服用地塞米松对子宫内的女性胎儿进行治疗。治疗成功,因为新生儿未出现男性化,且具有正常的女性外生殖器。还对另一个有两个患病儿子的家庭进行了研究,为未来的怀孕做准备。我们报告了这个家庭中CYP11B1基因第394密码子(R394delta1)处一个新的1个碱基对的缺失。

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