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孕妇37岁,孕4产1,3年前由于尿E_3值低疑胎盘功能下降剖宫产一3180g婴儿,生后诊断为肾上腺脂样增生。此次妊娠于孕19周行羊水穿刺示46,XY核型,放免法测羊水17α-羟孕酮0.8ng/ml(此孕周正常值为2.2±0.9ng/ml),孕20、22周两次B超示胎儿外生殖器为女性,以上结果极支持胎儿患先天性肾上腺脂样增生。应孕妇及其家庭要求继续妊娠。孕妇于孕晚期多次查尿E_3水平,均低于3.3mg/日;孕36周作去氢表雄酮负荷试验,母亲血、尿中E_3水平明显升高;孕38周分娩一体重3670g,核型为46,XY、表型为女性的婴儿。
Pregnant women 37 years old, pregnant 4 1, 3 years ago due to urinary E_3 low suspicious placental function decreased cesarean section a 3180g baby, postnatal diagnosis of adrenal lipid-like hyperplasia. The pregnancy in 19 weeks pregnant with amniocentesis 46, XY karyotype, radioimmunoassay amniotic fluid 17α-hydroxyprogesterone 0.8ng / ml (normal gestational age of 2.2 ± 0.9ng / ml), 20,202 weeks of pregnancy Two B ultrasound showed fetal external genitalia for women, the above results support the fetus suffering from congenital adrenal lipid-like hyperplasia. Pregnant women and their families are required to continue their pregnancy. Pregnant women in the third trimester of pregnancy check urinary E_3 levels were lower than 3.3mg / day; 36 weeks pregnant for dehydroepiandrosterone load test, maternal blood, urine E_3 levels were significantly increased; 38 weeks of pregnancy delivery weight 3670g, nuclear Type 46, XY, phenotypically female infants.