Artículo

46,XX ovotesticular DSD associated with a SOX3 gene duplication in a SRY-negative boy

Grinspon, RominaIcon ; Nevado, Julián; Mori Alvarez, María de los Ángeles; del Rey, Graciela MonicaIcon ; Castera, Roberto; Venara, Marcela CristinaIcon ; Chiesa, Ana ElenaIcon ; Podestá, Miguel LuisIcon ; Lapunzina, Pablo; Rey, Rodolfo AlbertoIcon
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.

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http://dx.doi.org/10.1111/cen.13126
http://onlinelibrary.wiley.com/doi/10.1111/cen.13126/abstract
info:eu-repo/semantics/restrictedAccess Excepto donde se diga explícitamente, este item se publica bajo la siguiente descripción: Creative Commons Attribution-NonCommercial-ShareAlike 2.5 Unported (CC BY-NC-SA 2.5)
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
URI: http://hdl.handle.net/11336/38690
 

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