July 13th, 2020

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Ovarian Dysgerminoma in a Karyotypically Normal Female with Premature Ovarian Insufficiency: A Case Report
Authors:  Alexandra Wilson, M.D., Michael Kelly, M.D., Bansari Patel, M.D., and Erika Johnston-MacAnanny, M.D.
BACKGROUND: Pure dysgerminomas account for 39% of malignant germ cell tumors in females. Dysgerminomas frequently occur within gonadoblastomas in patients with a Y chromosome, such as with pure gonadal dysgenesis (46XY), mixed gonadal dysgenesis (45X/46XY), and Turner syndrome. It is exceedingly rare for a patient to have both premature ovarian insufficiency and a dysgerminoma with a normal karyotype.

CASE: A 32-year-old gravida 2 para 2 woman who was diagnosed with premature ovarian insufficiency (POI) in 2012 presented to our facility for evaluation of infertility and was diagnosed with POI. She conceived twice with donor egg in vitro fertilization and re-presented in July 2017 for an additional transfer. Upon evaluation she was found to have a solid left adnexal mass. Pathologic specimen from oophorectomy confirmed dysgerminoma diagnosis.

CONCLUSION: Although there have been documented cases of karyotypically normal females with premature ovarian failure and germ cell tumors, our patient is the only reported case of a pure dysgerminoma in a karyotypically normal female with premature ovarian failure that we are aware of. This case raises the question of whether patients with simultaneous presentation of POI and ovarian mass are more likely to have malignant tumors.
Keywords:  dysgerminoma, germ cell tumors, in vitro fertilization, infertility, ovarian neoplasm, ovary, premature ovarian failure
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