ArticleFrontiers in endocrinology2026
Rare SRY-negative 46,XX disorder of sex development with male phenotype and ectopic gonads: a case report.
Article in Frontiers in endocrinology, 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
Individuals who exhibit male external genitalia and testicular tissue despite a 46,XX karyotype with SRY-Negative represent an exceptionally rare phenotype of disorders of sex development (DSD), and the underlying mechanism remains poorly understood. We report an 18-year-old patient with a 46,XX karyotype and a male phenotype who presented with a 2-year history of left scrotal pain. Physical examination demonstrated male-type external genitalia. Imaging revealed a uterine-like structure within the left hemiscrotum with intracavitary blood accumulation suggestive of retained menstrual blood, and testicular-like tissue in the right hemiscrotum; these findings were subsequently confirmed by surgical exploration and histopathology. In addition, ovarian tissue structures were also identified in the pathological specimens. Endocrine evaluation showed abnormally elevated serum levels of luteinizing hormone and estradiol, with abnormally decreased of testosterone. Our report highlights the diagnostic and therapeutic challenges of SRY-negative 46,XX DSD with a male phenotype and provides clinically relevant insights for differential diagnosis, pathogenetic considerations, and individualized management.
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