Difficulties in diagnosis and treatment of 5α-reductase type 2 deficiency in a newborn with 46,XY DSD

Hormone Research in Paediatrics

Volumn 74, Issue 1, 2010, Pages 67-71

  Walter, Kerstin N ^a   Kienzle, Frederike B ^a   Frankenschmidt, Alexander ^a   Hiort, Olaf ^b   Wudy, Stefan A ^c   Van Der Werf Grohmann, Natascha ^a   Superti Furga, Andrea ^a   Schwab, Karl Otfried ^a  

^a UNIVERSITY OF FREIBURG   (Germany)

^b UNIVERSITY OF LÜBECK   (Germany)

^c JUSTUS LIEBIG UNIVERSITY   (Germany)

Author keywords

46 XY DSD; 5 reductase deficiency; Ambiguous genitalia; SRD5A1 gene mutation; SRD5A2 gene mutation; Testosterone dihydrotestosterone ratio

Indexed keywords

ANDROSTANOLONE; CHORIONIC GONADOTROPIN BETA SUBUNIT; STEROID 5ALPHA REDUCTASE 2; TESTOSTERONE;

5 ALPHA REDUCTASE TYPE 2 DEFICIENCY; 5ALPHA REDUCTASE TYPE 2 DEFICIENCY; ARTICLE; CASE REPORT; CHILD; CHROMOSOME ANALYSIS; ENZYME DEFICIENCY; GENDER IDENTITY; GENE; GENE MUTATION; GENITAL MALFORMATION; HORMONAL REGULATION; HORMONAL THERAPY; HUMAN; KARYOTYPE 46,XY; MALE; MUTATIONAL ANALYSIS; NEWBORN DISEASE; PHENOTYPE; POINT MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SEXUAL DEVELOPMENT; SRD5A 2 GENE; STEROID ANALYSIS; VIRILIZATION;

DIHYDROTESTOSTERONE; FEMALE; GONADAL DYSGENESIS, 46,XY; HUMANS; INFANT, NEWBORN; MALE; POINT MUTATION; TESTOSTERONE; TESTOSTERONE 5-ALPHA-REDUCTASE;

EID: 77954788874     PISSN: 16632818     EISSN: 16632826     Source Type: Journal    
DOI: 10.1159/000313372     Document Type: Article

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