Steroidogenic factor-1 (SF-1) gene mutation as a frequent cause of primary amenorrhea in 46,XY female adolescents with low testosterone concentration

Reproductive Biology and Endocrinology

Volumn 8, Issue , 2010, Pages

  Philibert, Pascal ^a   Leprieur, Elodie ^a,b   Zenaty, Delphine ^c   Thibaud, Elisabeth ^d   Polak, Michel ^d   Frances, Anne Marie ^e   Lespinasse, James ^f   Raingeard, Isabelle ^a   Servant, Nadège ^a   Audran, Françoise ^a   Paris, Françoise ^a,b   Sultan, Charles ^a,b  

^a LAPEYRONIE HOSPITAL   (France)

^b HÔPITAL ARNAUD DE VILLENEUVE   (France)

^c HÔPITAL ROBERT DEBRÉ   (France)

^d HÔPITAL NECKER ENFANTS MALADES   (France)

^e Toulon La Seyne sur Mer Hospital   (France)

^f Hopital de Chambery   (France)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; FOLLITROPIN; LUTEINIZING HORMONE; STEROIDOGENIC FACTOR 1; TESTOSTERONE; NR5A1 PROTEIN, HUMAN; SRY PROTEIN, HUMAN; TESTIS DETERMINING FACTOR;

ADOLESCENT; ARTICLE; CLINICAL ARTICLE; DNA EXTRACTION; FEMALE; GENE AMPLIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENITAL SYSTEM; HEMIZYGOSITY; HETEROZYGOSITY; HORMONE BLOOD LEVEL; HUMAN; KARYOTYPE 46,XY; LEUKOCYTE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; POLYMERASE CHAIN REACTION; PRIMARY AMENORRHEA; RECEPTOR GENE; SEX DIFFERENTIATION DISORDER; AMENORRHEA; BIOLOGICAL MODEL; BLOOD; COHORT ANALYSIS; GENETICS; GONADAL DYSGENESIS; NUCLEOTIDE SEQUENCE; OSMOLARITY; PHYSIOLOGY;

ADOLESCENT; AMENORRHEA; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; FEMALE; FOLLICLE STIMULATING HORMONE; GONADAL DYSGENESIS, 46,XY; HUMANS; LUTEINIZING HORMONE; MODELS, BIOLOGICAL; MUTATION, MISSENSE; OSMOLAR CONCENTRATION; SEX-DETERMINING REGION Y PROTEIN; STEROIDOGENIC FACTOR 1; TESTOSTERONE;

EID: 77951934885     PISSN: None     EISSN: 14777827     Source Type: Journal    
DOI: 10.1186/1477-7827-8-28     Document Type: Article

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