title: Steroid sulfatase deficiency and contiguous gene deletion syndrome amongst pregnant patients with low serum unconjugated estriols.
abstract: 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.
authors.affiliation: Medical Genetics, University of British Columbia, Vancouver, Canada. slanglois@cw.bc.ca
authors.forename: Sylvie
authors.initials: S
authors.lastname: Langlois
authors.forename: Linlea
authors.initials: L
authors.lastname: Armstrong
authors.forename: Kim
authors.initials: K
authors.lastname: Gall
authors.forename: Gurdip
authors.initials: G
authors.lastname: Hulait
authors.forename: Janet
authors.initials: J
authors.lastname: Livingston
authors.forename: Tanya
authors.initials: T
authors.lastname: Nelson
authors.forename: Patricia
authors.initials: P
authors.lastname: Power
authors.forename: Denise
authors.initials: D
authors.lastname: Pugash
authors.forename: Dawn
authors.initials: D
authors.lastname: Siciliano
authors.forename: Michelle
authors.initials: M
authors.lastname: Steinraths
authors.forename: André
authors.initials: A
authors.lastname: Mattman
mesh_terms: 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
chemical_list: D004964:Estriol