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Unconjugated estriol as an indication for prenatal diagnosis of steroid sulfatase deficiency by in situ hybridization. 1998

M N Ahmed, and A Killam, and K H Thompson, and M B Qumsiyeh
Department of Obstetrics and Gynecology, Duke University Medical Center, Durham, North Carolina 27710, USA. ahmed005@mc.duke.edu

BACKGROUND Undetectable or very low unconjugated estriol (E3) levels in routine maternal serum screening are associated with steroid sulfatase deficiency, miscarriages, and anencephaly. METHODS 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). CONCLUSIONS 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.

UI MeSH Term Description Entries
D011247 Pregnancy The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH. Gestation,Pregnancies
D011296 Prenatal Diagnosis Determination of the nature of a pathological condition or disease in the postimplantation EMBRYO; FETUS; or pregnant female before birth. Diagnosis, Prenatal,Fetal Diagnosis,Fetal Imaging,Fetal Screening,Intrauterine Diagnosis,Antenatal Diagnosis,Antenatal Screening,Diagnosis, Antenatal,Diagnosis, Intrauterine,Prenatal Screening,Antenatal Diagnoses,Antenatal Screenings,Diagnosis, Fetal,Fetal Diagnoses,Fetal Imagings,Fetal Screenings,Imaging, Fetal,Intrauterine Diagnoses,Prenatal Diagnoses,Prenatal Screenings,Screening, Antenatal,Screening, Fetal,Screening, Prenatal
D004964 Estriol A hydroxylated metabolite of ESTRADIOL or ESTRONE that has a hydroxyl group at C3, 16-alpha, and 17-beta position. Estriol is a major urinary estrogen. During PREGNANCY, a large amount of estriol is produced by the PLACENTA. Isomers with inversion of the hydroxyl group or groups are called epiestriol. (16alpha,17beta)-Estra-1,3,5(10)-Triene-3,16,17-Triol,(16beta,17beta)-Estra-1,3,5(10)-Triene-3,16,17-Triol,16-alpha-Hydroxy-Estradiol,16alpha,17beta-Estriol,16beta-Hydroxy-Estradiol,Epiestriol,Estra-1,3,5(10)-Triene-3,16beta,17beta-Triol,Ovestin,16 alpha Hydroxy Estradiol,16alpha,17beta Estriol,16beta Hydroxy Estradiol
D005260 Female Females
D005315 Fetal Diseases Pathophysiological conditions of the FETUS in the UTERUS. Some fetal diseases may be treated with FETAL THERAPIES. Embryopathies,Disease, Fetal,Diseases, Fetal,Embryopathy,Fetal Disease
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults
D001192 Arylsulfatases Enzymes that catalyze the hydrolysis of a phenol sulfate to yield a phenol and sulfate. Arylsulfatase A, B, and C have been separated. A deficiency of arylsulfatases is one of the causes of metachromatic leukodystrophy (LEUKODYSTROPHY, METACHROMATIC). EC 3.1.6.1. Arylsulfatase,Arylsulfate Sulfohydrolase,Arylsulfate Sulfohydrolases,Arylsulphatase,Arylsulphatases,Pseudo Arylsulfatase A,Sulfohydrolase, Arylsulfate
D017403 In Situ Hybridization A technique that localizes specific nucleic acid sequences within intact chromosomes, eukaryotic cells, or bacterial cells through the use of specific nucleic acid-labeled probes. Hybridization in Situ,Hybridization, In Situ,Hybridizations, In Situ,In Situ Hybridizations
D043266 Steryl-Sulfatase An arylsulfatase with high specificity towards sulfated steroids. Defects in this enzyme are the cause of ICHTHYOSIS, X-LINKED. 3 Beta-Hydroxysteroid Sulfate Sulfatase,Arylsulfatase C,Arylsulphatase C,Cholesterol Sulfatase,Cholesterol Sulfate Sulfatase,DHEA Sulfatase,Dehydroepiandrosterone Sulfate Sulfatase,Estrone Sulfate Sulfatase,Estrone Sulfate Sulfohydrolase,Steroid Sulfatase,Steroid Sulfohydrolase,Steroid Sulphatase,Sterol Sulfatase,Sterylsulfatase,3 Beta Hydroxysteroid Sulfate Sulfatase,Steryl Sulfatase,Sulfatase, Cholesterol,Sulfatase, Cholesterol Sulfate,Sulfatase, DHEA,Sulfatase, Dehydroepiandrosterone Sulfate,Sulfatase, Estrone Sulfate,Sulfatase, Steroid,Sulfatase, Sterol,Sulfate Sulfatase, Cholesterol,Sulfate Sulfatase, Dehydroepiandrosterone,Sulfate Sulfatase, Estrone,Sulfate Sulfohydrolase, Estrone,Sulfohydrolase, Estrone Sulfate,Sulfohydrolase, Steroid,Sulphatase, Steroid

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