Lajic S, Wedell A, Bui T H, Ritzén E M, Holst M
Department of Woman and Child Health, Karolinska Hospital, Stockholm, Sweden.
J Clin Endocrinol Metab. 1998 Nov;83(11):3872-80. doi: 10.1210/jcem.83.11.5233.
Prenatal virilization of female fetuses is a serious symptom associated with severe congenital adrenal hyperplasia. In attempt to avoid sexual ambiguity, prenatal treatment of 21-hydroxylase deficiency was initiated in 1984, with the first Scandinavian case treated in 1985. Here we have studied the outcome of prenatal diagnosis and therapy of 44 at-risk pregnancies monitored during the years 1985-1995 in Scandinavia. Treated mothers and children were compared with matched controls. Compared to their elder affected sisters, all 5 girls with severe congenital adrenal hyperplasia who were treated until term showed little virilization. Only 1 required surgery for labial fusion. The majority of the 44 dexamethasone-treated fetuses demonstrated normal pre- and postnatal growth compared to matched controls. However, several adverse events such as failure to thrive and delayed psychomotor development, were reported among the treated infants. In addition, treated mothers reported more side-effects during pregnancy than did controls. A significant increase in weight gain was observed during early pregnancy when treatment was initiated, but this initial rapid weight gain declined during late pregnancy or when treatment was terminated. Thus, experience to date suggests that prenatal treatment of affected female fetuses is generally efficient in minimizing virilization of external genitalia. However, there is still a need to collect more data concerning possible rare unfavorable effects of this therapy on mother and child.
女性胎儿产前男性化是一种与严重先天性肾上腺皮质增生相关的严重症状。为避免性别模糊，1984年开始对21 - 羟化酶缺乏症进行产前治疗，1985年治疗了第一例斯堪的纳维亚病例。在此，我们研究了1985年至1995年期间在斯堪的纳维亚监测的44例高危妊娠的产前诊断和治疗结果。将接受治疗的母亲和儿童与匹配的对照组进行比较。与她们受影响的姐姐相比，所有5名接受治疗直至足月的患有严重先天性肾上腺皮质增生的女孩男性化程度都很低。只有1例因阴唇融合需要手术。与匹配的对照组相比，44例接受地塞米松治疗的胎儿中大多数在出生前和出生后的生长情况正常。然而，在接受治疗的婴儿中报告了一些不良事件，如发育不良和精神运动发育迟缓。此外，接受治疗的母亲报告孕期的副作用比对照组更多。开始治疗时，在妊娠早期观察到体重显著增加，但这种最初的快速体重增加在妊娠晚期或治疗终止时下降。因此，迄今为止的经验表明，对受影响的女性胎儿进行产前治疗通常能有效减少外生殖器的男性化。然而，仍需要收集更多关于这种治疗对母亲和孩子可能存在的罕见不良影响的数据。
