Occurrence of Gonadoblastoma in Patients with 45,X/46,XY Mosaicism.

Autor: Dendrinos ML; Department of Obstetrics and Gynecology, University of Michigan Health System, Ann Arbor, Michigan. Electronic address: mdendri2@hfhs.org., Smorgick N; Department of Obstetrics and Gynecology, University of Michigan Health System, Ann Arbor, Michigan., Marsh CA; Department of Obstetrics and Gynecology, University of Michigan Health System, Ann Arbor, Michigan., Smith YR; Department of Obstetrics and Gynecology, University of Michigan Health System, Ann Arbor, Michigan., Quint EH; Department of Obstetrics and Gynecology, University of Michigan Health System, Ann Arbor, Michigan.
Jazyk: angličtina
Zdroj: Journal of pediatric and adolescent gynecology [J Pediatr Adolesc Gynecol] 2015 Jun; Vol. 28 (3), pp. 192-5. Date of Electronic Publication: 2014 Oct 02.
DOI: 10.1016/j.jpag.2014.09.016
Abstrakt: Study Objective: To estimate the overall frequency of gonadal tumors in patients with 45,X/46,XY mosaicism who underwent gonadectomy and to determine whether the degree of external masculinization or the location of gonads were associated with the presence of gonadal tumor.
Design: Retrospective study of patients with karyotype of 45,X/46,XY or variant who received care at the study institution between 1995 and 2012.
Setting: University of Michigan Health System (Ann Arbor, Michigan), a tertiary care academic center.
Participants: Sixteen patients with karyotype of 45,X/46,XY who underwent gonadectomy.
Interventions: None.
Main Outcome Measure: Presence of pathology-confirmed gonadal tumor.
Results: In patients who underwent bilateral gonadectomy, gonadoblastomas were detected in 36.4% (4 of 11), and all were identified in patients with normal female external genitalia (4 of 8 [50.0%]). Abdominal gonads were associated with a nonsignificant increase in rate of gonadal tumor compared with inguinal or scrotal gonads. No malignant tumors were identified.
Conclusion: The overall rate of gonadoblastoma was higher than previously reported. The high rate of gonadoblastoma in patients with female external genitalia and the lack of gonadal function support continuing the standard of care of practice of prophylactic gonadectomy in this patient population.
(Copyright © 2015 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.)
Databáze: MEDLINE
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