Adnexal Torsion Due to Borderline Mucinous Tumor of the Gonad in a Prepubertal Girl with Mixed Gonadal Dysgenesis (45,X/46,XY) and a Turner Phenotype

Turner syndrome (TS) is a sex chromosome condition characterized by complete or partial loss of the X chromosome. Patients with mixed gonadal dysgenesis (45,X/46,XY) and a Turner phenotype are predisposed to gonadoblastoma with malignant transformation. We present the case of a TS patient with 45,X/...

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Bibliographic Details
Published in:Journal of pediatric & adolescent gynecology 2022-08, Vol.35 (4), p.492-495
Main Authors: Grenvik, Jessica Marie, Keenahan, Laura, Adeyemi-Fowode, Oluyemisi
Format: Article
Language:English
Subjects:
Adnexal torsion
Gonadoblastoma
Malignant risk
Mixed gonadal dysgenesis
Mucinous borderline tumor
Ovarian torsion
Premenarchal
Turner syndrome
Turner syndrome with Y chromosome
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Summary:Turner syndrome (TS) is a sex chromosome condition characterized by complete or partial loss of the X chromosome. Patients with mixed gonadal dysgenesis (45,X/46,XY) and a Turner phenotype are predisposed to gonadoblastoma with malignant transformation. We present the case of a TS patient with 45,X/46,XY with 2 episodes of left adnexal torsion (AT). Biopsies during detorsion showed benign mucinous cystadenoma. Pathology following bilateral gonadectomy revealed a left gonad with mucinous borderline tumor and right gonad with gonadoblastoma, both of which have malignant potential. Gonadectomy is recommended in XY gonadal dysgenesis to decrease risk of malignant transformation from gonadoblastoma. Although rare in pediatric patients, ovarian malignancies have been identified among AT cases. To our knowledge, we present the first case of AT due to borderline ovarian mucinous tumor of the ovary and contralateral gonadoblastoma in a patient with mixed gonadal dysgenesis (45,X/46,XY) and a Turner phenotype.
ISSN:1083-3188
1873-4332
DOI:10.1016/j.jpag.2022.01.002