Pubertal Development as a Marker of Gonadal Neoplasm in 46XY Complete Gonadal Dysgenesis
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. 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). 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.