Journal of pediatric and adolescent gynecology · 2025
Pubertal Development as a Marker of Gonadal Neoplasm in 46XY Complete Gonadal Dysgenesis.
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Villena Cristina, Brookhart Carolyn D, Das Kirsten, Naroji Swetha, Gomez-Lobo Veronica
Аннотация
BACKGROUND: 46XY 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 & CONCLUSION: Puberty in patients with 46XY CGD should prompt suspicion for gonadal tumors. Early recognition and gonadectomy are crucial to prevent malignant transformation and optimize outcomes.
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 & CONCLUSION: Puberty in patients with 46XY CGD should prompt suspicion for gonadal tumors. Early recognition and gonadectomy are crucial to prevent malignant transformation and optimize outcomes.