ESPE Abstracts (2018) 89 P-P3-321

Gonadal Tumor Incidence in Patients with Disorders of Sex Development Containing Y Chromosome or Y-derived Sequences - Experience from One Clinical Center

Aneta Gawlika, Aleksandra Antosza, Agnieszka Drosdzol-Copb, Grzegorz Kudelac, Tomasz Koszutskic & Ewa Małecka-Tenderaa


aDepartment of Pediatrics and Pediatric Endocrinology, School of Medicine in Katowice, Medical University of Silesia, Katowice, Poland; bChair of Woman’s Health, Medical University of Silesia in Katowice,, Katowice, Poland; cDepartment of Pediatric Surgery, Division of Pediatric Urology, Medical University of Silesia, Katowice, Poland


Background: Risk of developing germ cell tumors (GCTs) in disorders of sex development (DSD) patients with karyotypes contain Y-chromosome or it’s material (Y) increase with age. The appropriate timing for prophylactic gonadectomy in these patients is still controversial.

Aim: To analyze the gonadal tumor incidence and histological assessment of gonads in DSD (Y) patients who were treated in a single institution between 1997 and 03/2018.

Patients/Methods: 43 SD (Y) patients’ data from one center in the last twenty years were analyzed: 16(37.2%) with 45,X/46,XY, 25(58.1%) with 46,XY and 2(4.65%) with 46,XX/46,XY.

Results: 29(67.4%) patients were reared as female (F), 14(32.6%) as male (M) (Table 1). Gonadectomy was performed in 22(51.2%) patients: in 7/10 45,X/46,XY TS patients (age 7.65±5.33 yrs), in 2/5 males with 45,X/46,XY (at age 4.66±5.31 yrs), in 5/9 with AIS (age 11.98±7.0 yrs) and in 8/8 with GD (age 13.04±5.64 yrs). The TS 45,X/46,XY patients experienced the shortest delay between diagnosis and surgery. In one CAIS patient the earlier gonadectomy resulted from testicular torsion. 40 gonads were histopatologically evaluated, of which 12 (30%, 7 patients) tested GCTs positive. Gonadoblastoma was found in 3/14 gonads of TS patients and in 6/15 gonads of patients with GD. Additionally in 3 gonads of GD patients dysgerminoma was discovered. Leydig-Sertoli cell tumor was described in 2/9 AIS gonads (in one patient). Carcinoma embryonale, with Yolk sack tumor (on the basis of gonadoblastoma) was found in 1 gonad of 46,XY GD F patient. With the exception of the last patient, there were no evident clinical/laboratory indicators of gonadal tumor risk in DSD (Y) patients.

Table 1
DSD 45,X/46,XYDSD 46,XX/46,XYDSD 46,XY
n11511178
age of diagnosis mean (SD) [yrs]5.82(5.0)4.51 (4.49)0.020.7110.06 (6.98)0.23 (0.35)
F/M rearingFMFMFM
AIS(9)PAIS/5AR?(1)
Diagnosis (n)TS (10)GD (5)in progressin progressGD(7)GD (1)
GD (1)CAH (1)PAIS ?(5)
Ohers (1)

Conclusion: The overall GCTs risk was 30% and 46,XY GD carried the highest risk. Further search for useful clinical/lab markers of individual tumor risk is urgently needed.

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