Characterization of a novel CYP19A1 (aromatase) R192H mutation causing virilization of a 46,XX newborn, undervirilization of the 46,XY brother, but no virilization of the mother during pregnancies

Molecular and Cellular Endocrinology

Volumn 390, Issue 1-2, 2014, Pages 8-17

  Bouchoucha, Nadia ^a,b   Samara Boustani, Dinane ^c   Pandey, Amit V ^a,b   Bony Trifunovic, Helene ^d   Hofer, Gaby ^a,b   Aigrain, Yves ^c   Polak, Michel ^c   Flück, Christa E ^a,b  

^a UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^b UNIVERSITY OF BERN   (Switzerland)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

^d AMIENS UNIVERSITY HOSPITAL   (France)

Author keywords

Aromatase; CYP19A1; Disorder of sexual development; DSD; Fetal placental unit; Steroidogenesis

Indexed keywords

ANDROSTENEDIONE; ARGININE; AROMATASE; CORTODOXONE; FOLLITROPIN; HISTIDINE; HYDROXYPROGESTERONE; TESTOSTERONE; CYP19A1 PROTEIN, HUMAN; PROTEIN BINDING;

AMINO ACID SUBSTITUTION; ANDROGEN BLOOD LEVEL; AROMATASE DEFICIENCY; ARTICLE; CASE REPORT; CHILD; CLITOROMEGALY; CONSANGUINITY; CRYPTORCHISM; CYP19A1 GENE; ENZYME ACTIVITY; ENZYME BINDING; ENZYME SUBSTRATE; FEMALE; FEMALE GENITAL TRACT MALFORMATION; FOLLOW UP; GENE IDENTIFICATION; GENETIC ANALYSIS; GENITAL MALFORMATION; HOMOZYGOSITY; HUMAN; HYPOSPADIAS; KARYOTYPE 46,XX; KARYOTYPE 46,XY; MALE; MOTHER CHILD RELATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; ORCHIDOPEXY; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; VAGINA RECONSTRUCTION; VIRILIZATION; AMINO ACID SEQUENCE; ANIMAL; BIOCATALYSIS; CHEMICAL STRUCTURE; CHEMISTRY; CHLOROCEBUS AETHIOPS; COS 1 CELL LINE; DEFICIENCY; ENZYME ACTIVE SITE; ENZYMOLOGY; GENETIC ASSOCIATION; GENETICS; GONADAL DISEASE; HOMOZYGOTE; INFANT; MISSENSE MUTATION; MOLECULAR GENETICS; PEDIGREE; PREGNANCY;

AMINO ACID SEQUENCE; ANIMALS; AROMATASE; BIOCATALYSIS; CATALYTIC DOMAIN; CERCOPITHECUS AETHIOPS; CHILD; CONSANGUINITY; COS CELLS; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC ASSOCIATION STUDIES; HOMOZYGOTE; HUMANS; INFANT; MALE; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; PREGNANCY; PROTEIN BINDING; VIRILISM;

EID: 84898861939     PISSN: 03037207     EISSN: 18728057     Source Type: Journal    
DOI: 10.1016/j.mce.2014.03.008     Document Type: Article

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