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Unconjugated estriol as an indication for prenatal diagnosis of steroid sulfatase deficiency by in situ hybridization.

AbstractBACKGROUND:
Undetectable or very low unconjugated estriol (E3) levels in routine maternal serum screening are associated with steroid sulfatase deficiency, miscarriages, and anencephaly.
CASES:
Fluorescence in situ hybridization techniques were used in the diagnosis of steroid sulfatase deficiency prenatally in three cases with low or undetectable unconjugated E3 levels. Results showed a male fetus with a deleted steroid sulfatase region, but intact Kallmann syndrome region in all three cases. One mother was studied by fluorescence in situ hybridization and showed a similar deletion for steroid sulfatase gene in one copy of X chromosome (carrier).
CONCLUSION:
Women with undetectable or very low levels of estriol on serum screening should be counseled regarding steroid sulfatase deficiency with evaluation by fluorescence in situ hybridization.
AuthorsM N Ahmed, A Killam, K H Thompson, M B Qumsiyeh
JournalObstetrics and gynecology (Obstet Gynecol) Vol. 92 Issue 4 Pt 2 Pg. 687-9 (Oct 1998) ISSN: 0029-7844 [Print] United States
PMID9764665 (Publication Type: Case Reports, Journal Article)
Chemical References
  • Arylsulfatases
  • Steryl-Sulfatase
  • Estriol
Topics
  • Adult
  • Arylsulfatases (deficiency)
  • Estriol (blood)
  • Female
  • Fetal Diseases (enzymology)
  • Humans
  • In Situ Hybridization
  • Pregnancy
  • Prenatal Diagnosis
  • Steryl-Sulfatase

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