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本文报道了一个家庭中兄妹两人患孤立性家族性促肾上腺皮质激素(ACTH)缺陷所致肾上腺功能不全的新病例。男婴出生后14小时突然死亡,尸检发现患儿双侧肾上腺发育不全,经研究家族史和病理证实,该患儿可能为常染色体隐性传递,双亲再次妊娠具有1/4的复发风险,因此决定在下次妊娠时检测母体血浆雌三醇(E_3)水平。两年后再次妊娠,至孕中期仍正常,孕18周羊膜穿刺取羊水,检测羊水细胞染色体为46,XX。从孕30周开始,定期进行母体血浆E_3试验,其水平持续低下,为30nmol/l,清楚表明胎儿为肾上腺功能不全。38周
This article reports a new case of adrenal insufficiency caused by a solitary ACTH deficiency in both siblings in a family. The baby boy died suddenly 14 hours after birth, autopsy found bilateral adrenal insufficiency in children with family history and pathology confirmed that the child may be autosomal recessive, parents have a second recurrence of pregnancy risk, so Decided to test maternal plasma estriol (E_3) levels at the next pregnancy. Pregnancy two years later, the second trimester of pregnancy is still normal, 18 weeks pregnant amniocentesis amniotic fluid, detection of amniotic fluid cell chromosome 46, XX. From the 30th week of pregnancy, regular maternal plasma E_3 test, the level continued low, 30nmol / l, clearly shows that the fetus is adrenal insufficiency. 38 weeks