ArticleJournal of pediatric and adolescent gynecology2025
Pubertal Development as a Marker of Gonadal Neoplasm in 46XY Complete Gonadal Dysgenesis.
Article in Journal of pediatric and adolescent gynecology, 2025. 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
background46XY Complete Gonadal Dysgenesis (CGD), also known as Swyer syndrome, is characterized by nonfunctional streak gonads and an increased risk of gonadal neoplasms. While spontaneous puberty is not expected, hormonally active gonadal tumors can mimic normal puberty delaying diagnosis. CASE PRESENTATION: We present two adolescents with 46XY CGD and tumor-driven puberty: a 16-year-old with spontaneous thelarche and adrenarche found to have a left gonadoblastoma, and a 14-year-old with spontaneous menarche and pelvic pain who was subsequently diagnosed with a dysgerminoma and a sex cord tumor with annular tubules (SCTAT). DISCUSSION &
conclusionPuberty in patients with 46XY CGD should prompt suspicion for gonadal tumors. Early recognition and gonadectomy are crucial to prevent malignant transformation and optimize outcomes.
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