Clinical, biochemical and morphologic diagnostic markers in an infant male pseudohermaphrodite patient with compound heterozygous mutations (G115D/R246W) in SRD5A2 gene

Hormone Research

Volumn 62, Issue 5, 2004, Pages 259-264

  Fernández Cancio, Mónica ^a   Rodó, Joan ^b   Andaluza, Pilar ^a   De Osaba, María J M ^c   Rodríguez Hierro, Francisco ^d   Esteban, Cristina ^a   Carrascosa, Antonio ^a   Audí, Laura ^a  

^a HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

^b Sant Joan de Deu Children's Hospital   (Spain)

^c Hospital Clinico   (Spain)

^d HOSPITAL SANT JOAN DE DÉU   (Spain)

Author keywords

5 Reductase type 2 enzyme deficiency; Male pseudohermaphroditism; SRD5A2 gene mutations

Indexed keywords

ANDROGEN; ANDROGEN RECEPTOR; ANDROSTANOLONE; DNA; STEROID 5ALPHA REDUCTASE; TESTOSTERONE;

ARTICLE; CASE REPORT; CONTROLLED STUDY; DIAGNOSTIC PROCEDURE; DIFFERENTIAL DIAGNOSIS; ENZYME ACTIVITY; ENZYME DEFICIENCY; EXON; FATHER; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENITAL SYSTEM; GONADECTOMY; HETEROZYGOSITY; HORMONE BINDING; HORMONE DETERMINATION; HUMAN; HUMAN TISSUE; INFANT; MALE; MALE PSEUDOHERMAPHRODITISM; MORPHOLOGY; MOTHER; NEWBORN PERIOD; PRIORITY JOURNAL; PUBERTY; SKIN FIBROBLAST; TESTIS;

ADOLESCENT; ANDROGEN-INSENSITIVITY SYNDROME; BASE SEQUENCE; BIOLOGICAL MARKERS; DIAGNOSIS, DIFFERENTIAL; DIHYDROTESTOSTERONE; DNA; DNA MUTATIONAL ANALYSIS; FEMALE; HETEROZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUTATION; PEDIGREE; PSEUDOHERMAPHRODITISM; TESTIS; TESTOSTERONE; TESTOSTERONE 5-ALPHA-REDUCTASE;

EID: 9344265201     PISSN: 03010163     EISSN: None     Source Type: Journal    
DOI: 10.1159/000081893     Document Type: Article

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