ECE2014 Poster Presentations Endocrine tumours and neoplasia (99 abstracts)
Gonadal tumor incidence in 45,X/46,XY and 46,XY female patients: experience from one clinical center
Aneta Gawlik 1 , Aleksandra Antosz 1 , Agnieszka Zachurzok 1 , Pawel Matusik 1 , Halla Kaminska 1 , Grzegorz Kudela 2 , Tomasz Koszutski 2 & Ewa Malecka-Tendera 1
1Department of Pediatrics, Pediatric Endocrinology and Diabetes, Medical University of Silesia, Katowice, Poland; 2Division of Pediatric Urology, Department of Pediatric Surgery, Medical University of Silesia, Katowice, Poland.
Type II germ cell tumors are predictable complications in patients with disorder of sex development (DSD) and with Y chromosome present. The risk of tumor development varies significantly between subsets of DSD and in some cases early gonadectomy is perceived as overtreatment.
The aim of the study was to analyze the gonadal tumor incidence in 45,X/46,XY and 46,XY patients who were reared as female and managed at single institution between 1997 and 2013.
Patients and methods/results: 15 patients, 7 with 45,X/46XY diagnosed as Turner syndrome (TS), eight with 45,XY DSD caused by androgen insensitivity syndrome (AIS) or gonadal dysgenesis (GD). 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 were performed in 14 of 15 patients: in 7/7 TS patients (mean age 7.65 years, required 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. Gonadoblastoma was found in 2/13 gonads of TS patients. Gonadoblastoma with dysgerminoma was detected in 2/8 gonads of GD 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: The risk of gonadal tumor was estimated at 14.8%. Further search for useful clinical/lab markers of individual tumor risk are urgently needed.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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