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


CONCLUSIONS
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.
Craig
Wendy Y
WY
Foundation for Blood Research, Scarborough, ME 04070, USA. wcraig@fbr.org
Roberson
Marie
M
Palomaki
Glenn E
GE
Shackleton
Cedric H L
CH
Marcos
Josep
J
Haddow
James E
JE
D001741:Black or African American; D002140:California / Q000453:epidemiology; D005260:Female; D006630:Hispanic or Latino; D006801:Humans; D016114:Ichthyosis, X-Linked / Q000453:epidemiology* / Q000208:ethnology*; D008297:Male; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D011296:Prenatal Diagnosis; D015995:Prevalence; D044465:White People