Prevalence of steroid sulfatase deficiency in California according to race and ethnicity
2010; Wiley; Volume: 30; Issue: 9 Linguagem: Inglês
10.1002/pd.2588
ISSN1097-0223
AutoresWendy Y. Craig, Marie Roberson, Glenn E. Palomaki, Cedric Shackleton, Josep Marcos, James E. Haddow,
Tópico(s)Hormonal Regulation and Hypertension
ResumoAbstract 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 < 0.15 MoM, 8 (10.8%) at 0.15–0.20 MoM, and 0 (0%) at > 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 © 2010 John Wiley & Sons, Ltd.
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