Page last updated: 2024-11-06

estriol and Smith-Lemli-Opitz Syndrome

estriol has been researched along with Smith-Lemli-Opitz Syndrome in 18 studies

hormonin: estrogen replacement; each tablet contains 600 ug micronized 17beta-estradiol, 270 ug estriol and 1.4 mg estrone
chlorapatite : A phosphate mineral with the formula Ca5(PO4)3Cl.

Smith-Lemli-Opitz Syndrome: An autosomal recessive disorder of CHOLESTEROL metabolism. It is caused by a deficiency of 7-dehydrocholesterol reductase, the enzyme that converts 7-dehydrocholesterol to cholesterol, leading to an abnormally low plasma cholesterol. This syndrome is characterized by multiple CONGENITAL ABNORMALITIES, growth deficiency, and INTELLECTUAL DISABILITY.

Research Excerpts

ExcerptRelevanceReference
"To assess the clinical value of low maternal serum unconjugated estriol (E3) level for diagnosing Smith-Lemli-Opitz syndrome and other fetal clinical conditions in pregnant members of a large health maintenance organization."7.72Maternal serum unconjugated estriol as a predictor for Smith-Lemli-Opitz syndrome and other fetal conditions. ( Krieger, R; Norem, C; O'Keefe, J; Schoen, E; To, TT; Walton, D, 2003)
"[structure: see text] Brief partial syntheses are described for ring B unsaturated estriols, which are candidate metabolites diagnostic for Smith-Lemli-Opitz syndrome prenatally."7.71Synthesis of ring B unsaturated estriols. Confirming the structure of a diagnostic analyte for Smith-Lemli-Opitz syndrome. ( Guo, LW; Shackleton, CH; Wilson, WK, 2001)
"Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder caused by reduced activity of 7-dehydrocholesterol (7DHC) reductase, resulting in a decreased level of cholesterol and increased concentrations of 7DHC and 8DHC in body fluids and tissues."3.73Maternal urinary steroid profiles in prenatal diagnosis of Smith-Lemli-Opitz syndrome: first patient series comparing biochemical and molecular studies. ( Ciara, E; Czerwiecka, M; Goryluk-Kozakiewicz, B; Jezela-Stanek, A; Jezuita, J; Krajewska-Walasek, M; Małunowicz, EM; Nowaczyk, MJ; Popowska, E; Spodar, K, 2006)
"To assess the clinical value of low maternal serum unconjugated estriol (E3) level for diagnosing Smith-Lemli-Opitz syndrome and other fetal clinical conditions in pregnant members of a large health maintenance organization."3.72Maternal serum unconjugated estriol as a predictor for Smith-Lemli-Opitz syndrome and other fetal conditions. ( Krieger, R; Norem, C; O'Keefe, J; Schoen, E; To, TT; Walton, D, 2003)
"[structure: see text] Brief partial syntheses are described for ring B unsaturated estriols, which are candidate metabolites diagnostic for Smith-Lemli-Opitz syndrome prenatally."3.71Synthesis of ring B unsaturated estriols. Confirming the structure of a diagnostic analyte for Smith-Lemli-Opitz syndrome. ( Guo, LW; Shackleton, CH; Wilson, WK, 2001)
"The equine-type estriols 1,3,5(10),7-estratetraene-3,16alpha,17beta-triol (16alpha-hydroxy-17beta-dihydroequilin) and 1,3,5(10),6,8-estrapentaene-3,16alpha,17beta-triol (16alpha-hydroxy-17beta-dihydroequilenin) constituted over half of the estrogens excreted by a woman carrying a Smith-Lemli-Opitz syndrome (SLOS) affected fetus."3.70Equine type estrogens produced by a pregnant woman carrying a Smith-Lemli-Opitz syndrome fetus. ( Kelley, RI; Kratz, LE; Roitman, E; Shackleton, CH, 1999)
"We selected 14 cases of trisomy 18 and 3 cases of SLO in which the maternal uE(3) level was decreased and reported malformations were observed after fetopathological examination."1.40Involvement and alteration of the Sonic Hedgehog pathway is associated with decreased cholesterol level in trisomy 18 and SLO amniocytes. ( Bigot, N; Galera, P; Gruchy, N; Jeanne Pasquier, C; Leporrier, N; Odent, S; Read, MH, 2014)
"The DR and SPR for trisomy 21 (N = 827) during the quadruple-marker time period were 75."1.37Detection rate of quadruple-marker screening determined by clinical follow-up and registry data in the statewide California program, July 2007 to February 2009. ( Currier, RJ; Flessel, M; Goldman, S; Hennigan, C; Hodgkinson, C; Kazerouni, NN; Lorey, F; Malm, L; Roberson, M; Tempelis, C, 2011)

Research

Studies (18)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's6 (33.33)18.2507
2000's10 (55.56)29.6817
2010's2 (11.11)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Gruchy, N1
Bigot, N1
Jeanne Pasquier, C1
Read, MH1
Odent, S1
Galera, P1
Leporrier, N1
Jelliffe-Pawlowski, LL1
Walton-Haynes, L1
Currier, RJ2
Marcos, J2
Craig, WY4
Palomaki, GE5
Kloza, EM1
Haddow, JE5
Roberson, M3
Bradley, LA4
Shackleton, CH5
Kazerouni, NN1
Flessel, M1
Goldman, S1
Hennigan, C1
Hodgkinson, C1
Lorey, F1
Malm, L1
Tempelis, C1
Schoen, E1
Norem, C1
O'Keefe, J1
Krieger, R1
Walton, D1
To, TT1
Shinawi, M1
Szabo, S1
Popek, E1
Wassif, CA1
Porter, FD1
Potocki, L1
Jezela-Stanek, A1
Małunowicz, EM1
Ciara, E1
Popowska, E1
Goryluk-Kozakiewicz, B1
Spodar, K1
Czerwiecka, M1
Jezuita, J1
Nowaczyk, MJ1
Krajewska-Walasek, M1
Kelley, RI5
Kratz, LE3
Canick, JA1
Abuelo, DN1
Tint, GS2
Knight, GJ2
Opitz, JM1
Irons, M1
Bick, DP1
McCorkle, D1
Stanley, WS1
Stern, HJ1
Staszak, P1
Berkovitz, GD1
Meyers, CM1
Roitman, E2
Craig, JE1
Savage, V1
Cowley, D1
Clague, A1
Glass, IA1
Kratz, L1
Kelley, R1
Guo, LW1
Wilson, WK1

Clinical Trials (1)

Trial Overview

TrialPhaseEnrollmentStudy TypeStart DateStatus
The Feasibility of Screening for Smith-Lemli-Opitz Syndrome[NCT00070850]1,800 participants Observational2001-04-30Completed
[information is prepared from clinicaltrials.gov, extracted Sep-2024]

Reviews

3 reviews available for estriol and Smith-Lemli-Opitz Syndrome

ArticleYear
Recognition of Smith-Lemli-Opitz syndrome (RSH) in the fetus: utility of ultrasonography and biochemical analysis in pregnancies with low maternal serum estriol.
    American journal of medical genetics. Part A, 2005, Sep-15, Volume: 138, Issue:1

    Topics: DNA Mutational Analysis; Estriol; Fatal Outcome; Female; Fetal Diseases; Humans; Male; Mutation, Mis

2005
Levels of unconjugated estriol and other maternal serum markers in pregnancies with Smith-Lemli-Opitz (RSH) syndrome fetuses.
    American journal of medical genetics, 1999, Feb-12, Volume: 82, Issue:4

    Topics: alpha-Fetoproteins; Biomarkers; Chorionic Gonadotropin; Estriol; Female; Genetic Testing; Humans; Pr

1999
Prenatal diagnosis of Smith-Lemli-Opitz syndrome in a pregnancy with low maternal serum oestriol and a sex-reversed fetus.
    Prenatal diagnosis, 1999, Volume: 19, Issue:1

    Topics: Adult; Amniotic Fluid; Dehydrocholesterols; Diagnosis, Differential; Disorders of Sex Development; E

1999

Trials

1 trial available for estriol and Smith-Lemli-Opitz Syndrome

ArticleYear
Dehydrosteroid measurements in maternal urine or serum for the prenatal diagnosis of Smith-Lemli-Opitz syndrome (SLOS).
    American journal of medical genetics. Part A, 2007, Sep-15, Volume: 143A, Issue:18

    Topics: Estriol; Female; Gas Chromatography-Mass Spectrometry; Humans; Male; Pregnancy; Pregnanetriol; Smith

2007

Other Studies

14 other studies available for estriol and Smith-Lemli-Opitz Syndrome

ArticleYear
Involvement and alteration of the Sonic Hedgehog pathway is associated with decreased cholesterol level in trisomy 18 and SLO amniocytes.
    Molecular genetics and metabolism, 2014, Volume: 112, Issue:2

    Topics: Amniotic Fluid; Atorvastatin; Bone Morphogenetic Protein 2; Cells, Cultured; Cholesterol; Chromosome

2014
Using second trimester ultrasound and maternal serum biomarker data to help detect congenital heart defects in pregnancies with positive triple-marker screening results.
    American journal of medical genetics. Part A, 2008, Oct-01, Volume: 146A, Issue:19

    Topics: alpha-Fetoproteins; Biomarkers; Chorionic Gonadotropin; Chromosomes, Human, Pair 18; Chromosomes, Hu

2008
Maternal urine and serum steroid measurements to identify steroid sulfatase deficiency (STSD) in second trimester pregnancies.
    Prenatal diagnosis, 2009, Volume: 29, Issue:8

    Topics: Androsterone; Dehydroepiandrosterone; Estriol; False Positive Reactions; Female; Gas Chromatography-

2009
Detection rate of quadruple-marker screening determined by clinical follow-up and registry data in the statewide California program, July 2007 to February 2009.
    Prenatal diagnosis, 2011, Volume: 31, Issue:9

    Topics: Adult; alpha-Fetoproteins; Biomarkers; California; Chorionic Gonadotropin; Chromosome Aberrations; C

2011
Maternal serum unconjugated estriol as a predictor for Smith-Lemli-Opitz syndrome and other fetal conditions.
    Obstetrics and gynecology, 2003, Volume: 102, Issue:1

    Topics: Adult; Biomarkers; Cohort Studies; Estriol; Female; Fetal Diseases; Fetal Viability; Gestational Age

2003
Maternal urinary steroid profiles in prenatal diagnosis of Smith-Lemli-Opitz syndrome: first patient series comparing biochemical and molecular studies.
    Clinical genetics, 2006, Volume: 69, Issue:1

    Topics: Adult; Amniotic Fluid; Chorionic Villi Sampling; Dehydrocholesterols; Estriol; Family; Female; Gas C

2006
Major fetal abnormalities associated with positive screening tests for Smith-Lemli-Opitz syndrome (SLOS).
    Prenatal diagnosis, 2007, Volume: 27, Issue:5

    Topics: Adult; alpha-Fetoproteins; California; Chorionic Gonadotropin; Down Syndrome; Estriol; Female; Human

2007
Maternal serum marker levels in two pregnancies affected with Smith-Lemli-Opitz syndrome.
    Prenatal diagnosis, 1997, Volume: 17, Issue:2

    Topics: alpha-Fetoproteins; Chorionic Gonadotropin; Estriol; Female; Humans; Pregnancy; Smith-Lemli-Opitz Sy

1997
Prenatal diagnosis of the RSH/Smith-Lemli-Opitz syndrome.
    American journal of medical genetics, 1999, Feb-19, Volume: 82, Issue:5

    Topics: Amniotic Fluid; Cholesterol; Chorionic Villi; Dehydrocholesterols; Estriol; Female; Humans; Models,

1999
Equine type estrogens produced by a pregnant woman carrying a Smith-Lemli-Opitz syndrome fetus.
    The Journal of clinical endocrinology and metabolism, 1999, Volume: 84, Issue:3

    Topics: Adult; Animals; Estriol; Female; Horses; Humans; Pregnancy; Smith-Lemli-Opitz Syndrome

1999
Low maternal serum oestriol at mid-trimester may indicate a fetal disorder of cholesterol biosynthesis.
    The Australian & New Zealand journal of obstetrics & gynaecology, 1999, Volume: 39, Issue:2

    Topics: Adult; Estriol; Fatal Outcome; Female; Fetal Diseases; Humans; Infant, Newborn; Male; Pregnancy; Pre

1999
Dehydro-oestriol and dehydropregnanetriol are candidate analytes for prenatal diagnosis of Smith-Lemli-Opitz syndrome.
    Prenatal diagnosis, 2001, Volume: 21, Issue:3

    Topics: Biomarkers; Estriol; Female; Gas Chromatography-Mass Spectrometry; Humans; Predictive Value of Tests

2001
Synthesis of ring B unsaturated estriols. Confirming the structure of a diagnostic analyte for Smith-Lemli-Opitz syndrome.
    Organic letters, 2001, Aug-09, Volume: 3, Issue:16

    Topics: Biomarkers; Estriol; Gas Chromatography-Mass Spectrometry; Indicators and Reagents; Smith-Lemli-Opit

2001
Assigning risk for Smith-Lemli-Opitz syndrome as part of 2nd trimester screening for Down's syndrome.
    Journal of medical screening, 2002, Volume: 9, Issue:1

    Topics: alpha-Fetoproteins; Biomarkers; Chorionic Gonadotropin; Down Syndrome; Estriol; Female; Humans; Preg

2002