Ritzén E M
Pediatric Endocrinology, Karolinska Hospital, Stockholm, Sweden.
Semin Neonatol. 2001 Aug;6(4):357-62. doi: 10.1053/siny.2001.0071.
Virilization due to congenital adrenal hyperplasia (CAH) can effectively be prevented or diminished by prenatal dexamethasone given to the mother. This treatment, which should only be considered in families with a previous child with a virilizing form of the disease, has to start already at 6-7 weeks of gestation. Thus, the treatment has to be given 'blindly' to all mothers at risk until the diagnosis of an affected female can be ascertained by analysis of DNA from a chorionic villous biopsy, which cannot be performed until the 10th week. Since CAH is inherited as an autosomal recessive disease and only affected girls benefit from the treatment, seven out of eight fetuses are treated unnecessarily. This makes it especially important to monitor possible side effects. Adverse effects on brain and kidneys have been shown in animals exposed to large doses of dexamethasone during the second trimester. Too few follow-up human studies are reported to date to allow definite conclusions on possible side effects in man. Therefore, treatment should be done within controlled clinical studies.
母亲在孕期使用地塞米松可有效预防或减轻因先天性肾上腺皮质增生症（CAH）导致的男性化。这种治疗仅适用于有前一个孩子患男性化型该疾病的家庭，必须在妊娠6 - 7周时就开始。因此，在通过绒毛膜绒毛活检的DNA分析确定受影响的女性胎儿之前，必须对所有有风险的母亲“盲目”进行治疗，而这种活检直到第10周才能进行。由于CAH是常染色体隐性疾病，只有受影响的女孩能从治疗中获益，所以八分之七的胎儿接受了不必要的治疗。这使得监测可能的副作用尤为重要。在妊娠中期接触大剂量地塞米松的动物中，已显示对大脑和肾脏有不良影响。迄今为止，报道的后续人体研究太少，无法就对人类可能的副作用得出明确结论。因此，治疗应在对照临床研究中进行。
