Abstract
Background
Disorders of sex development are congenital conditions with atypical chromosomal,
gonadal, or anatomical sex development. Gonadal dysgenesis in patients containing
a Y chromosome have a high risk of developing germ cell tumors with potential for
malignant transformation.
Case
We present the case of a 17-year-old phenotypic female with primary amenorrhea and
46,XY complete gonadal dysgenesis. Pelvic ultrasound showed a solid cystic lesion
in the right gonad. Pathology showed a gonadoblastoma-associated mixed gonadal germ
cell tumor with dysgerminoma and hepatoid yolk sac tumor.
Summary and Conclusion
To our knowledge, this mixed neoplasm association has not been previously reported
and this case illustrates the challenges for the diagnosis of gonadal dysgenesis-associated
tumors, emphasizing its recognition and prognostic implications.
Key Words
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References
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Article info
Publication history
Published online: June 05, 2019
Footnotes
The authors indicate no conflicts of interest.
Identification
Copyright
© 2019 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc.
