ESPE Abstracts (2014) 82 P-D-2-3-497

Gonadal Tumor in 46,XY and 45,X/46,XY Female Patients: One Clinical Center Experience

Aneta Gawlika, Aleksandra Antosza, Grzegorz Kudelab, Agnieszka Drosdzol-Copc, Agnieszka Zachurzoka, Pawel Matusika, Halla Kaminskaa, Tomasz Koszutskib & Ewa Malecka-Tenderaa


aDepartment of Pediatrics, Pediatric Endocrinology and Diabetes, Medical University of Silesia, Katowice, Poland; bDivision of Pediatric Urology, Department of Pediatric Surgery, Medical University of Silesia, Katowice, Poland; cWoman’s Health Institute, Medical University of Silesia, Katowice, Poland


Background: The incidence of gonadal tumor development varies significantly between subsets of patients with disorder of sex development (DSD). In some female patients with Y chromosome too early gonadectomy is perceived as overtreatment.

Objective and hypotheses: The aim of the study was to analyze the gonadal tumor incidence in DSD female patients with 45,X/46,XY or 46,XY.

Method: 15 patients, managed at single institution between Oct 1997 and Feb 2014: seven with 45,X/46,XY diagnosed as Turner syndrome (TS), eight with 45,XY DSD caused by androgen insensitivity syndrome (AIS) or gonadal dysgenesis (GD).

Results: The mean age of diagnosis in 45,X/46,XY TS and for the patients with 46,XY DSD were 6.63±6.0 and 13.56±5.73 years, respectively (P<0.05). Gonadectomy was performed in 14 of 15 patients: in 7/7 TS patients (mean age 7.65 years, before GH treatment), in 3/4 with AIS and in 4/4 with GD (in 6/7 within 1 year after diagnosis). 27 gonads were evaluated by histopatology. The risk of gonadal tumor was estimated at 22.2%. Gonadoblastoma was found in 2/13 gonads of TS (in two patients). Gonadoblastoma with dysgerminoma was detected in 2/8 gonads of GD patients (in two patients). Leydig–Sertoli cell tumor was described in 2/6 AIS gonads (in one patient). There were no evident clinical indicators of gonadal tumor risk in 45,X/46,XY and 46,XY female patients.

Conclusion: In 1/3 of our patients gonadal tumor was diagnosed. Further search for useful clinical/lab markers of individual tumor risk is urgently needed.

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