Prevalence of steroid sulfatase deficiency in California according to race and ethnicity

Prenat Diagn. 2010 Sep;30(9):893-8. doi: 10.1002/pd.2588.


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.

MeSH terms

  • Black or African American
  • California / epidemiology
  • Female
  • Hispanic or Latino
  • Humans
  • Ichthyosis, X-Linked / epidemiology*
  • Ichthyosis, X-Linked / ethnology*
  • Male
  • Pregnancy
  • Pregnancy Trimester, Second
  • Prenatal Diagnosis*
  • Prevalence
  • White People*