Steroid sulfatase deficiency and contiguous gene deletion syndrome amongst pregnant patients with low serum unconjugated estriols.
OBJECTIVE
To ascertain all prenatally diagnosed cases of Steroid Sulfatase (STS) deficiency in British Columbia between August 2002 and July 2007 to determine the incidence of this condition, the clinical and laboratory findings, and the risk of a contiguous gene deletion syndrome.


METHODS
We reviewed the medical records of these patients to obtain detailed information about the maternal serum screening results, family history, investigations performed, and outcome of the pregnancy.


RESULTS
Thirty pregnant patients were found to have a male fetus/infant with STS deficiency, giving a minimal estimated incidence of this condition of approximately 1 in 1513 males. In twenty nine cases, this condition was isolated. One patient was found to have a contiguous gene deletion syndrome. In cases of sporadic STS deficiency diagnosed prenatally, the frequency of contiguous gene deletion syndrome in this study was 1 out of 12 (8.3%).


CONCLUSIONS
The clinical, cytogenetic and molecular data on this series of prenatally diagnosed cases of STS deficiency indicates that this is a common condition and in cases with no family history, the risk of contiguous gene deletion syndrome is significant, and warrants additional molecular genetic investigations of the mother and/or fetus.
Langlois
Sylvie
S
Medical Genetics, University of British Columbia, Vancouver, Canada. slanglois@cw.bc.ca
Armstrong
Linlea
L
Gall
Kim
K
Hulait
Gurdip
G
Livingston
Janet
J
Nelson
Tanya
T
Power
Patricia
P
Pugash
Denise
D
Siciliano
Dawn
D
Steinraths
Michelle
M
Mattman
André
A
D001955:British Columbia / Q000453:epidemiology; D004252:DNA Mutational Analysis / Q000379:methods; D004964:Estriol / Q000097:blood*; D005260:Female; D017353:Gene Deletion; D030342:Genetic Diseases, Inborn / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics; D006801:Humans; D016114:Ichthyosis, X-Linked / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics; D015994:Incidence; D007231:Infant, Newborn; D008297:Male; D009035:Mothers; D011247:Pregnancy; D011262:Pregnancy Trimester, Second / Q000097:blood; D011296:Prenatal Diagnosis / Q000379:methods; D012189:Retrospective Studies; D013577:Syndrome
D004964:Estriol