Keren D F, Canick J A, Johnson M Z, Schaldenbrand J D, Haning R V, Hackett R
Warde Medical Laboratory, Ann Arbor, Michigan 48108, USA.
Am J Clin Pathol. 1995 Apr;103(4):400-3. doi: 10.1093/ajcp/103.4.400.
Placental sulfatase deficiency is an X-linked metabolic defect that occurs in about 1 in 2,000 to 5,000 males. It is associated with congenital ichthyosis. In this report, the authors document a case of placental sulfatase deficiency detected during routine prenatal screening of maternal serum by the triple test: serum alpha-fetoprotein (AFP), unconjugated estriol (uE3), and human chorionic gonadotropin (hCG). At 16-weeks gestation, her AFP was 20.9 IU/mL (multiple of the median [MOM] 0.83), hCG was 14.4 mIU/L (MOM 0.42) and her uE3 was 0.01 nmol/L (MOM 0.01). The extremely low uE3 indicated a possible placental sulfatase deficiency, congenital adrenal hypoplasia, or other unknown abnormality. On receiving this information, the obstetrician obtained a family history that was consistent with ichthyosis in the maternal grandfather and his siblings. Biochemical analysis of placenta documented the lack of sulfatase activity. This case illustrates that an extremely low level of maternal uE3 should prompt investigation of the family for evidence of X-linked ichthyosis associated with placental sulfatase deficiency.
胎盘硫酸酯酶缺乏症是一种X连锁代谢缺陷病，在每2000至5000名男性中约有1例发生。它与先天性鱼鳞病有关。在本报告中，作者记录了一例在孕妇血清常规产前筛查三联检测（血清甲胎蛋白[AFP]、未结合雌三醇[uE3]和人绒毛膜促性腺激素[hCG]）过程中检测出的胎盘硫酸酯酶缺乏症病例。妊娠16周时，她的AFP为20.9 IU/mL（中位数倍数[MOM] 0.83），hCG为14.4 mIU/L（MOM 0.42），uE3为0.01 nmol/L（MOM 0.01）。极低的uE3表明可能存在胎盘硫酸酯酶缺乏症、先天性肾上腺发育不全或其他未知异常。收到此信息后，产科医生获取了一份家族史，结果显示外祖父及其兄弟姐妹患有鱼鳞病。胎盘的生化分析证实缺乏硫酸酯酶活性。该病例表明，孕妇uE3水平极低时，应调查家族中是否有与胎盘硫酸酯酶缺乏症相关的X连锁鱼鳞病证据。
