title: Steroidogenic factor-1 (SF-1) gene mutation as a frequent cause of primary amenorrhea in 46,XY female adolescents with low testosterone concentration.
authors.affiliation: Service d'Hormonologie, Hôpital Lapeyronie, CHU Montpellier, and Université Montpellier 1, France.
authors.forename: Pascal
authors.initials: P
authors.lastname: Philibert
authors.forename: Elodie
authors.initials: E
authors.lastname: Leprieur
authors.forename: Delphine
authors.initials: D
authors.lastname: Zenaty
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Thibaud
authors.forename: Michel
authors.initials: M
authors.lastname: Polak
authors.forename: Anne-Marie
authors.initials: AM
authors.lastname: Frances
authors.forename: James
authors.initials: J
authors.lastname: Lespinasse
authors.forename: Isabelle
authors.initials: I
authors.lastname: Raingeard
authors.forename: Nadège
authors.initials: N
authors.lastname: Servant
authors.forename: Françoise
authors.initials: F
authors.lastname: Audran
authors.forename: Françoise
authors.initials: F
authors.lastname: Paris
authors.forename: Charles
authors.initials: C
authors.lastname: Sultan
mesh_terms: D000293:Adolescent; D000568:Amenorrhea / Q000097:blood / Q000150:complications / Q000235:genetics*; D015331:Cohort Studies; D004252:DNA Mutational Analysis; D005260:Female; D005640:Follicle Stimulating Hormone / Q000097:blood; D006061:Gonadal Dysgenesis, 46,XY / Q000097:blood / Q000150:complications / Q000235:genetics*; D006801:Humans; D007986:Luteinizing Hormone / Q000097:blood; D008954:Models, Biological; D020125:Mutation, Missense / Q000502:physiology; D009994:Osmolar Concentration; D051876:Sex-Determining Region Y Protein / Q000235:genetics; D054339:Steroidogenic Factor 1 / Q000235:genetics*; D013739:Testosterone / Q000097:blood*
chemical_list: C515057:NR5A1 protein, human; C497745:SRY protein, human; D051876:Sex-Determining Region Y Protein; D054339:Steroidogenic Factor 1; D013739:Testosterone; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone