Gonadoblastoma with a 45,XO karyotype.
An otherwise asymptomatic 17-year-old phenotypic female examined because of primary amenorrhea and hypoplastic reproductive organs was found to have a 45,XO karyotype. She had some of the stigmata of Turner syndrome. Laparoscopy revealed streak ovaries and an infantile uterus. Ovarian biopsy contained gonadoblastoma that was treated by total abdominal hysterectomy and bilateral salpingo-oophorectomy. Rationale for laparoscopy and ovarian biopsy of this asymptomatic patient and the serendipitous discovery of a malignant neoplasm are discussed.
D000293:Adolescent; D001706:Biopsy; D004407:Dysgerminoma / Q000150:complications / Q000473:pathology*; D005260:Female; D006801:Humans; D007621:Karyotyping; D010051:Ovarian Neoplasms / Q000150:complications / Q000473:pathology*; D014424:Turner Syndrome / Q000150:complications* / Q000235:genetics