Background: Risk of developing germ cell tumors (GCTs) in disorders of sex development (DSD) patients with karyotypes contain Y-chromosome or its 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.
|DSD 45,X/46,XY||DSD 46,XX/46,XY||DSD 46,XY|
|age of diagnosis mean (SD) [yrs]||5.82(5.0)||4.51 (4.49)||0.02||0.71||10.06 (6.98)||0.23 (0.35)|
|Diagnosis (n)||TS (10)||GD (5)||in progress||in progress||GD(7)||GD (1)|
|GD (1)||CAH (1)||PAIS ?(5)|
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.
27 - 29 Sep 2018
European Society for Paediatric Endocrinology