Prenatal diagnosis of P450 oxidoreductase deficiency (ORD): A disorder causing low pregnancy estriol, maternal and fetal virilization, and the Antley-Bixler syndrome phenotype

American Journal of Medical Genetics

Volumn 129, Issue 2, 2004, Pages 105-112

  Shackleton, Cedric ^a   Marcos, Josep ^a   Arlt, Wiebke ^b   Hauffa, Berthold P ^c  

^a CHILDREN S HOSPITAL OAKLAND RESEARCH INSTITUTE   (United States)

^b UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^c UNIVERSITY HOSPITAL ESSEN   (Germany)

Author keywords

Antley Bixler syndrome; Apparent pregnene hydroxylation deficiency; Genital ambiguity; Luteoma; Maternal virilization; Oxidoreductase deficiency; Pregnancy estriol

Indexed keywords

16ALPHA HYDROXYANDROSTERONE; 5ALPHA PREGNANE 3,20 DIONE; ANDROSTANOLONE; ANDROSTERONE; AROMATASE; CYTOCHROME P450; CYTOCHROME P450 REDUCTASE; CYTOCHROME P450C17; CYTOCHROME P450C21; EPIALLOPREGNANEDIOL; ESTRIOL; PREGNANEDIOL; PREGNENOLONE; UNCLASSIFIED DRUG;

ADULT; ANTLEY BIXLER SYNDROME; ARTICLE; CASE REPORT; ENZYME DEFICIENCY; FEMALE; GAS CHROMATOGRAPHY; GENE MUTATION; GESTATIONAL AGE; GONADAL DISEASE; HORMONE RELEASE; HUMAN; HYDROXYLATION; MALE; MASS SPECTROMETRY; NEWBORN; OXIDOREDUCTASE DEFICIENCY; PHENOTYPE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; STEROID URINE LEVEL; TESTOSTERONE SYNTHESIS; URINALYSIS; URINARY EXCRETION; URINE LEVEL; VIRILIZATION;

EID: 4344591415     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30171     Document Type: Article

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