Philibert, Pascal Steroidogenic factor-1 (SF-1) gene mutation as a frequent cause of primary amenorrhea in 46,XY female adolescents with low testosterone concentration. [electronic resource] - Reproductive biology and endocrinology : RB&E Mar 2010 - 28 p. digital Publication Type: Journal Article ISSN: 1477-7827 Standard No.: 10.1186/1477-7827-8-28 doi Subjects--Topical Terms: AdolescentAmenorrhea--bloodCohort StudiesDNA Mutational AnalysisFemaleFollicle Stimulating Hormone--bloodGonadal Dysgenesis, 46,XY--bloodHumansLuteinizing Hormone--bloodModels, BiologicalMutation, Missense--physiologyOsmolar ConcentrationSex-Determining Region Y Protein--geneticsSteroidogenic Factor 1--geneticsTestosterone--blood