Document Detail

Prevalence of steroid sulfatase deficiency in California according to race and ethnicity.
MedLine Citation:
PMID:  20715120     Owner:  NLM     Status:  MEDLINE    
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.
Wendy Y Craig; Marie Roberson; Glenn E Palomaki; Cedric H L Shackleton; Josep Marcos; James E Haddow
Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Prenatal diagnosis     Volume:  30     ISSN:  1097-0223     ISO Abbreviation:  Prenat. Diagn.     Publication Date:  2010 Sep 
Date Detail:
Created Date:  2010-09-02     Completed Date:  2010-12-15     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8106540     Medline TA:  Prenat Diagn     Country:  England    
Other Details:
Languages:  eng     Pagination:  893-8     Citation Subset:  IM    
Copyright Information:
(c) 2010 John Wiley & Sons, Ltd.
Foundation for Blood Research, Scarborough, ME 04070, USA.
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MeSH Terms
African Americans
California / epidemiology
European Continental Ancestry Group*
Hispanic Americans
Ichthyosis, X-Linked / epidemiology*,  ethnology*
Pregnancy Trimester, Second
Prenatal Diagnosis*

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