Abstract

SALGADO, Perla Cristina et al. Clinical and Cytogenetic Analysis of a Case of SRY-Negative XX Testicular Disorder of Sex Development. Rev. Med [online]. 2019, vol.27, n.1, pp.45-52.  Epub Nov 26, 2022. ISSN 0121-5256.  https://doi.org/10.18359/rmed.4753.

XX testicular disorder of sex development (DSD) is a pathology that occurs in an individual with a 46,XX karyotype and an anatomical phenotype of male external genitalia, which may vary from normal to ambiguous. Clinically, two subgroups of SRY-negative and SRY-positive, 46, XX men have been described, depending on the presence of the SRY gene that is normally found on the Y chromosome participating in testicular determination. This article describes the personal history and clinical findings of an infant with urethral meatus abnormalities in whom a 46,XX chromosome set was identified. Also, fluorescent in situ hybridization was performed in peripheral blood lymphocytes which demonstrated the absence of the SRY gene and confirmed the presence of two X chromosomes.

Keywords : 46,XX testicular disorder of sex development; 46,XX male; SRY-negative; fluorescent in situ hybridization.

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