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

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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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)

Identificadores

URI: http://hdl.handle.net/11336/38690

DOI: http://dx.doi.org/10.1111/cen.13126

URL: http://onlinelibrary.wiley.com/doi/10.1111/cen.13126/abstract

Colecciones

Articulos(CEDIE)
Articulos de CENTRO DE INVESTIGACIONES ENDOCRINOLOGICAS "DR. CESAR BERGADA"

Articulos(SEDE CENTRAL)
Articulos de SEDE CENTRAL

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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