Artículo
46,XX ovotesticular DSD associated with a SOX3 gene duplication in a SRY-negative boy
Grinspon, Romina
; Nevado, Julián; Mori Alvarez, María de los Ángeles; del Rey, Graciela Monica
; Castera, Roberto; Venara, Marcela Cristina
; Chiesa, Ana Elena
; Podestá, Miguel Luis
; Lapunzina, Pablo; Rey, Rodolfo Alberto






Fecha de publicación:
06/2016
Editorial:
Wiley Blackwell Publishing, Inc
Revista:
Clinical Endocrinology
ISSN:
0300-0664
Idioma:
Inglés
Tipo de recurso:
Artículo publicado
Resumen
Ovotesticular disorders of sex development (DSD) are characterized by the coexistence of ovarian and testicular tissue. Although some individuals carry a Y chromosome, explaining testicular development, 46,XX is the commonest karyotype, ranging from 65% to 90% of patients with ovotesticular DSD.1 In about one-third of 46,XX ovotesticular DSD cases, the SRY gene is present, owing to an abnormal translocation to the X chromosome or to an autosome. In the remaining cases, SRY is absent; however, the mechanism responsible for the development of testicular tissue is poorly understood.
Palabras clave:
Gonadal Dysgenesis
,
Gonadal Determination
,
Xx Male
,
Genomics
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Identificadores
Colecciones
Articulos(SEDE CENTRAL) [20659]
Articulos de SEDE CENTRAL
Articulos de SEDE CENTRAL
Articulos(CEDIE) [157]
Articulos de CENTRO DE INVESTIGACIONES ENDOCRINOLOGICAS "DR. CESAR BERGADA"
Articulos de CENTRO DE INVESTIGACIONES ENDOCRINOLOGICAS "DR. CESAR BERGADA"
Citación
Grinspon, Romina; Nevado, Julián; Mori Alvarez, María de los Ángeles; del Rey, Graciela Monica; Castera, Roberto; et al.; 46,XX ovotesticular DSD associated with a SOX3 gene duplication in a SRY-negative boy; Wiley Blackwell Publishing, Inc; Clinical Endocrinology; 85; 4; 6-2016; 673-675
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