46,XX testicular disorder of sex development

Definition:

46,XX disorder of sex development (46,XX DSD) is a condition in which the individual shows ambiguous genitalia with a 46,XX karyotype. Formerly, 46,XX DSD was also known as XX sex reversal (SRXX) or female pseudohermaphroditism. Testicular DSD patients, who have testicular tissue in the absence of an ovarian tissue, are phenotypically normal males.

References:

[1]. Anu Bashamboo, et al. Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children. Am J Hum Genet. 2018 Mar 1;102(3):487-493. [Content Brief]

[2]. Dorien Baetens, et al. NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development. Genet Med. 2017 Apr;19(4):367-376. [Content Brief]

[3]. Edwina Sutton, et al. Identification of SOX3 as an XX male sex reversal gene in mice and humans. J Clin Invest. 2011 Jan;121(1):328-41. [Content Brief]

[4]. Eleni Kousta, et al. Sex determination and disorders of sex development according to the revised nomenclature and classification in 46,XX individuals. Hormones (Athens). 2010 Jul-Sep;9(3):218-131. [Content Brief]

[5]. J C Zenteno-Ruiz, et al. 46,XX sex reversal. Arch Med Res. 2001 Nov-Dec;32(6):559-66. [Content Brief]

[6]. Mariam Moshiri, et al. Evaluation and management of disorders of sex development: multidisciplinary approach to a complex diagnosis. Radiographics. 2012 Oct;32(6):1599-618. [Content Brief]

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