Abstract | BACKGROUND: 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.
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Authors | M N Ahmed, A Killam, K H Thompson, M B Qumsiyeh |
Journal | Obstetrics and gynecology
(Obstet Gynecol)
Vol. 92
Issue 4 Pt 2
Pg. 687-9
(Oct 1998)
ISSN: 0029-7844 [Print] United States |
PMID | 9764665
(Publication Type: Case Reports, Journal Article)
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Chemical References |
- Arylsulfatases
- Steryl-Sulfatase
- Estriol
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Topics |
- Adult
- Arylsulfatases
(deficiency)
- Estriol
(blood)
- Female
- Fetal Diseases
(enzymology)
- Humans
- In Situ Hybridization
- Pregnancy
- Prenatal Diagnosis
- Steryl-Sulfatase
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