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117 PRENATAL TREATMENT OF A GIRL WITH 21-HYDROXYLASE DEFICIENCY (CAH)

机译:117含21羟化酶缺陷症(CAH)的女孩的产前治疗

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The possibility of prenatal diagnosis of CAH by steroid determinations and HLA typing in amniotic fluid and the knowledge that Dexamethasone (Dexa) crosses the placental barrier induced attempts on prenatal treatment of CAH girls by giving the mothers Dexa during pregnancy. The question is when to start treatment. Androgens start to act at week 8 of gestation, but it is still under discussion whether the fetal adrenals are under hypophyseal control before week 20.We treated the mother of a severely virilized CAH girl during her second pregnancy. We gave Dexa (0.5 mg/d) from week 12 to week 15, stopped for 7 days before amniocentesis, and then continued treatment until delivery. The fetus was diagnosed to be female and homozygous for CAH. Pregnancy and delivery were uncomplicated. The treated girl was virilized to the same degree as her untreated sister; however,clitoromegaly was markedly less developed (2cm in length vs 4cm in the untreated child). Adrenal steroids were elevated slightly in umbilical vein and artery, but highly in plasma at day 5 of life.We see three possible explanations for the fact that virilization was influenced not qualitatively but only quantitatively by prenatal treatment:1. the dose of Dexa may have been too low;2. treatment may have started too late;3. the activity of the fetal adrenals possibly is not influenced by Dexa at the time when early steps of virilization take place.
机译:通过类固醇测定和在羊水中输入HLA进行产前诊断CAH的可能性,以及地塞米松(Dexa)越过胎盘屏障的知识,可通过在怀孕期间给母亲Dexa来进行CAH女孩的产前治疗。问题是何时开始治疗。雄激素在妊娠的第8周开始起作用,但仍在讨论胎儿肾上腺是否在第20周之前处于垂体控制之下。我们对一名严重死亡的CAH女孩的母亲进行了第二次妊娠治疗。我们从第12周到第15周给予Dexa(0.5 mg / d),在羊膜穿刺术前停药7天,然后继续治疗直至分娩。胎儿被诊断为女性,并且是CAH纯合子。怀孕和分娩并不复杂。受过治疗的女孩与未受过治疗的姐姐一样被杀害。但是,巨人症的发展明显欠佳(长度为2厘米,未接受治疗的儿童为4厘米)。生命的第5天,肾上腺类固醇在脐静脉和动脉中略有升高,但在血浆中则升高。对于产前治疗对定性作用的影响不是定性而是定量的,我们可以看到三种可能的解释:1。 Dexa的剂量可能太低; 2。治疗可能开始得太迟了; 3。在发生早期葡萄胎化的时候,胎儿的肾上腺活动可能不受Dexa的影响。

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