Atypical presentation and management dilemma of mixed gonadal dysgenesis.
OBJECTIVE
To describe a case of 45,X/46,XY mixed gonadal dysgenesis complicated by malignancy with possible metastasis.


METHODS
Case report.


METHODS
University hospital.


METHODS
A 15-year-old female with primary amenorrhea, short stature, and a vaginal septum.


METHODS
Resection of transverse vaginal septum and laparoscopic bilateral gonadectomy.


RESULTS
The patient had dysgerminoma arising from gonadoblastoma in the left gonad and gonadoblastoma in the right gonad. No normal gonadal tissue could be identified. Postoperative computed tomography scan results were suspicious for lung metastases, but the patient opted for conservative management without chemotherapy.


CONCLUSIONS
Mixed gonadal dysgenesis involves inherent malignancy risk and complex psychosocial issues, which necessitate a multidisciplinary approach to diagnosis and treatment.
McKnight
Katherine K
KK
Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology, University of Alabama at Birmingham, Birmingham, Alabama 35249, USA. kkmcknight@gmail.com
Bates
G Wright
GW
D000293:Adolescent; D000970:Antineoplastic Agents; D004407:Dysgerminoma / Q000150:complications / Q000188:drug therapy / Q000556:secondary; D005260:Female; D006060:Gonadal Dysgenesis, Mixed / Q000150:complications*; D018238:Gonadoblastoma / Q000150:complications / Q000188:drug therapy / Q000556:secondary; D006801:Humans; D008175:Lung Neoplasms / Q000150:complications / Q000188:drug therapy / Q000556:secondary; D010051:Ovarian Neoplasms / Q000150:complications / Q000188:drug therapy / Q000473:pathology; D016312:Treatment Refusal
D000970:Antineoplastic Agents