Pubertal androgenization and gonadal histology in two 46, XY adolescents with NR5A1 mutations and predominantly female phenotype at birth

European Journal of Endocrinology

Volumn 166, Issue 2, 2012, Pages 341-349

  Cools, M ^a   Hoebeke, P ^a   Wolffenbuttel, K P ^b   Stoop, H ^c   Hersmus, R ^c   Barbaro, M ^d   Wedell, A ^d   Bruggenwirth H ^b   Looijenga, L H J ^c   Drop, S L S ^b  

^a GHENT UNIVERSITY HOSPITAL   (Belgium)

^b SOPHIA CHILDREN S HOSPITAL   (Netherlands)

^c JOSEPHINE NEFKENS INSTITUTE   (Netherlands)

^d KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

LUTEINIZING HORMONE; TESTOSTERONE;

ADOLESCENT; ARTICLE; CARCINOMA IN SITU; CASE REPORT; CONTROLLED STUDY; CORTICOTROPIN TEST; FEMALE; GENE; GENE DELETION; GENE FUNCTION; GENE MUTATION; GENETIC CODE; GERM CELL; GONADECTOMY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; KARYOTYPE 46,XY; LUTEINIZING HORMONE BLOOD LEVEL; MALE; NONSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; SEX HORMONE DETERMINATION; SPERMATOGENESIS; STEROIDOGENIC FACTOR 1 GENE; TESTIS BIOPSY; TESTIS CARCINOMA; TESTIS FUNCTION; TESTOSTERONE BLOOD LEVEL; VIRILIZATION;

ADOLESCENT; BASE SEQUENCE; FEMALE; GONADAL DYSGENESIS, 46,XY; GONADS; HUMANS; INFANT, NEWBORN; MALE; MUTATION; PARTURITION; PHENOTYPE; PUBERTY; STEROIDOGENIC FACTOR 1; VIRILISM;

EID: 84856112780     PISSN: 08044643     EISSN: 1479683X     Source Type: Journal    
DOI: 10.1530/EJE-11-0392     Document Type: Article

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