Case report reveals SRY-positive 46,XX testicular disorder in a male infant following discordant prenatal sex assessment, indicating complexity in diagnosis.
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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González et al. (2026) studied this question.
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