A novel heterozygous mutation in steroidogenic factor-1 in pubertal virilization of a 46,XY female adolescent.

Siklar, Zeynep; Berberoglu, Merih; Ceylaner, Serdar; Çamtosun, Emine; Kocaay, Pinar; Göllü, Gülnur; Sertçelik, Ayse; Öcal, Gönül

Siklar, Zeynep; Berberoglu, Merih; Ceylaner, Serdar; Çamtosun, Emine; Kocaay, Pinar; Göllü, Gülnur; Sertçelik, Ayse; Öcal, Gönül.

Afiliación

Siklar Z; Department of Pediatric Endocrinology, Ankara University School of Medicine, Ankara, Turkey. Electronic address: zeynepsklr@gmail.com.
Berberoglu M; Department of Pediatric Endocrinology, Ankara University School of Medicine, Ankara, Turkey.
Ceylaner S; Medical Genetics, Intergen Genetics Centre, Ankara, Turkey.
Çamtosun E; Department of Pediatric Endocrinology, Ankara University School of Medicine, Ankara, Turkey.
Kocaay P; Department of Pediatric Endocrinology, Ankara University School of Medicine, Ankara, Turkey.
Göllü G; Department of Pediatric Surgery, Ankara University School of Medicine, Ankara, Turkey.
Sertçelik A; Department of Pathology, Ankara University School of Medicine, Ankara, Turkey.
Öcal G; Department of Pediatric Endocrinology, Ankara University School of Medicine, Ankara, Turkey.

J Pediatr Adolesc Gynecol ; 27(2): 98-101, 2014 Apr.

Article en En | MEDLINE | ID: mdl-24231572

Asunto(s)

Disgenesia Gonadal 46 XY/genética; Heterocigoto; Factor Esteroidogénico 1/genética; Virilismo/genética; Niño; Femenino; Identidad de Género; Pruebas Genéticas; Disgenesia Gonadal 46 XY/complicaciones; Disgenesia Gonadal 46 XY/patología; Disgenesia Gonadal 46 XY/terapia; Humanos; Mutación; Virilismo/complicaciones; Virilismo/patología; Virilismo/terapia

Palabras clave

Gonadal dysgenesis; Pubertal virilization; Steroidogenic factor-1

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Virilismo / Factor Esteroidogénico 1 / Disgenesia Gonadal 46 XY / Heterocigoto Tipo de estudio: Prognostic_studies Límite: Child / Female / Humans Idioma: En Revista: J Pediatr Adolesc Gynecol Asunto de la revista: GINECOLOGIA / PEDIATRIA Año: 2014 Tipo del documento: Article Pais de publicación: Estados Unidos

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