Prevalence of steroid sulfatase deficiency in California according to race and ethnicity
Prevalence of steroid sulfatase deficiency in California according to race and ethnicity
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DOI：
10.1002/pd.2588
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发表时间：
2010-09-01
影响因子：
3
通讯作者：
Haddow, James E.
中科院分区：
文献类型：
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作者：
Craig, Wendy Y.;Roberson, Marie;Haddow, James E.
目的利用既往Smith-Lemli-Opitz综合征（SLOS）产前检测研究的数据，估计加州种族/民族人群中类固醇硫酸酯酶缺乏症（STSD）的患病率。SLOS和STSD均具有低的母体血清未结合雌三醇（uE 3）水平。方法采用三个步骤估计患病率：列出临床确定的病例;使用诊断性尿类固醇测量在三个uE 3间隔建立STSD频率模型;应用该模型确定不提供尿液的妊娠的频率。（0.28%）为筛查阳性;其中1379例被解释并排除。余707例男胎妊娠中临床确诊54例。尿类固醇检测确定了74例额外的STSD病例：66例（89.2%）uE 3值0.20 MoM。在370例无尿样的妊娠中，建模估计有107.5例STSD。在男性中，STSD患病率在非西班牙裔白人（1：1230）中最高，与西班牙裔（1：1620）和亚洲人（1：1790）相比，但差异不显著。没有STSD怀孕被发现在65屏幕阳性Black women.Conclusion 1：1500男性的总体患病率估计与公布的估计是一致的，是合理的咨询，除了在黑人怀孕，没有可靠的估计可以作出。版权所有（C）2010约翰威利父子有限公司
Objective Estimate steroid sulfatase deficiency (STSD) prevalence among California's racial/ethnic groups using data from a previous study focused on prenatal detection of Smith-Lemli-Opitz syndrome (SLOS). SLOS and STSD both have low maternal serum unconjugated estriol (uE3) levels.Methods Prevalence was estimated using three steps: listing clinically identified cases; modeling STSD frequency at three uE3 intervals using diagnostic urine steroid measurements; applying this model to determine frequency in pregnancies not providing urine.Results Overall, 2151 of 777 088 pregnancies (0.28%) were screen positive; 1379 of these were explained and excluded. Fifty-four cases were diagnosed clinically among 707 remaining pregnancies with a male fetus. Urine steroid testing identified 74 additional STSD cases: 66 (89.2%) at uE3 values 0.20 MoM. Modeling estimated 107.5 STSD cases among 370 pregnancies without urine samples. In males, STSD prevalence was highest among non-Hispanic Whites (1 : 1230) compared to Hispanics (1 : 1620) and Asians (1 : 1790), but differences were not significant. No STSD pregnancies were found among 65 screen positive Black women.Conclusion The overall prevalence estimate of 1 : 1500 males is consistent with published estimates and is reasonable for counseling, except among Black pregnancies where no reliable estimate could be made. Copyright (C) 2010 John Wiley & Sons, Ltd.