P450c17 Deficiency in Brazilian Patients: Biochemical Diagnosis through Progesterone Levels Confirmed by CYP17 Genotyping

Journal of Clinical Endocrinology and Metabolism

Volumn 88, Issue 12, 2003, Pages 5739-5746

  Martin, Regina M ^a   Lin, Chin J ^a   Costa, Elaine M F ^a   De Oliveira, Maria Leocadia ^b   Carrilho, Alexandre ^b   Villar, Heloisa ^c   Longui, Carlos A ^d   Mendonca, Berenice B ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b STATE UNIVERSITY OF LONDRINA   (Brazil)

^c FACULDADE DE MEDICINA DE MARÍLIA   (Brazil)

^d FACULDADE DE CIÊNCIAS MÉDICAS DA SANTA CASA DE SÃO PAULO   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

CORTICOTROPIN; CYTOCHROME P450 17; PRASTERONE; PROGESTERONE; SEX HORMONE; STEROID 17,20 LYASE; STEROID 17ALPHA MONOOXYGENASE;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BRAZIL; CAUCASIAN; CHILD; CLINICAL ARTICLE; CONGENITAL ADRENAL HYPERPLASIA; CONTROLLED STUDY; CYTOCHROME P450 17 DEFICIENCY; DIAGNOSTIC ACCURACY; DIAGNOSTIC VALUE; DIFFERENTIAL DIAGNOSIS; DISEASE MARKER; ENZYME DEFICIENCY; ETHNIC DIFFERENCE; FEMALE; GENETIC PREDISPOSITION; GENETIC SCREENING; GENOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HORMONE BLOOD LEVEL; HORMONE RELEASE; HUMAN; HYPERTENSION; HYPOKALEMIA; MALE PSEUDOHERMAPHRODITISM; MISSENSE MUTATION; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PHENOTYPE; PLASMA RENIN ACTIVITY; PRIMARY AMENORRHEA; PRIORITY JOURNAL; PROGESTERONE BLOOD LEVEL; SECONDARY AMENORRHEA;

ADOLESCENT; ADRENAL HYPERPLASIA, CONGENITAL; ADULT; BASE SEQUENCE; BRAZIL; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; DIAGNOSIS, DIFFERENTIAL; FEMALE; GENOTYPE; HETEROZYGOTE; HOMOZYGOTE; HORMONES; HUMANS; MALE; MUTATION, MISSENSE; PROGESTERONE; SEX DIFFERENTIATION DISORDERS; STEROID 17-ALPHA-HYDROXYLASE;

EID: 0347362882     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.2003-030988     Document Type: Article

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