Table 4

 Risk of germ cell malignancy according to diagnosis

Risk groupDisorderMalignancy riskRecommended actionStudies (n)Patients (n)
*Gonadal dysgenesis (including not further specified, 46XY, 46X/46XY, mixed, partial, complete).
†GBY region positive, including the TSPY gene.
‡At time of diagnosis.
§At puberty, allowing investigation of at least 30 seminiferous tubules, with diagnosis preferably based on OCT3/4 immunohistochemistry.
CAIS, complete androgen insensitivity syndrome; DSD, disorders of sex development; HSD, hydroxysteroid dehydrogenase deficiency; PAIS, partial androgen insensitivity syndrome.
HighGD* (+Y)† intra-abdominal15–35Gonadectomy‡12>350
PAIS non-scrotal50Gonadectomy‡224
Denys-Drash (+Y)40Gonadectomy‡15
IntermediateTurner (+Y)12Gonadectomy‡1143
GD (+Y)‡ scrotalUnknownBiopsy§ and irradiation?00
PAIS scrotal gonadUnknownBiopsy§ and irradiation?00
LowCAIS2Biopsy§ and ???255
Ovotestis DSD3Testis tissue removal?3426
Turner (–Y)1None11557
No (?)5α-reductase0Unresolved13
Leydig cell hypoplasia0Unresolved2