ArticleUrology case reports2026
Prenatal sex discordance revealing SRY-positive 46,XX testicular disorder of sex development.
Article in Urology case reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
46,XX testicular disorder of sex development (DSD) is a rare condition usually diagnosed during adolescence or adulthood due to infertility or hypogonadism. Early diagnosis in phenotypically normal infants is uncommon. We report a male infant identified following discordant prenatal sex assessment, with noninvasive prenatal testing suggesting a female fetus and prenatal ultrasonography demonstrating male genitalia. Postnatal chromosomal analysis revealed 46,X,add(X) (p22.3) with SRY positivity. Physical examination showed normal male external genitalia with bilaterally descended testes and no genital anomalies. After two years of multidisciplinary follow-up, the patient remained clinically stable without gonadal abnormalities.
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