Primary amenorrhea in two postpubertal girls with underlying malignancy

We report two adolescent girls diagnosed with 46, XY gonadal dysgenesis and dysgerminomas who initially presented with delayed menarche. The first patient presented with primary amenorrhea and tall stature at age 14 0/12 years. Elevated serum testosterone levels and subsequent selective venous catheterization for localized testosterone levels indicated a gonadal source of the androgens. Examination of the gonads revealed testicular tissue with Leydig cell hyperplasia, and a dysgerminoma. The second patient presented with primary amenorrhea and an abdominal mass at age 15 0/12 years. Fine-needle biopsy of the mass revealed a dysgerminoma. After 4 months of standard chemotherapy, she underwent gonadectomy. Findings included fibrotic gonads with a right gonadoblastoma. These two patients illustrate the importance of evaluating abnormal pubertal development. As Y-bearing intraabdominal gonads are associated with significant risk of neoplasia, this diagnosis is critical and must be followed by gonadectomy.