Table 1.

Classification of Frasier syndrome (n = 88)

Type 1 (n = 72)Type 2 (n = 8)Type 3 (n = 8)
External genitaliaFemaleMaleFemale
Sex chromosomeXYXYXX
nAge, y (mean ± SD)nAge, y (mean ± SD)nAge, y (mean ± SD)
First complaint
 Renal disordera495.4 ± 4.335.3 ± 0.667.8 ± 5.2
 Delayed secondary sex characteristicsb417.0 ± 3.400
 Hypospadias or aplasia of testis051.0 ± 2.20
 Abdominal pain or mass310.0 ± 3.600
 Other44.5 ± 3.90113.0
 No description1201
Complaint leading to Frasier syndrome diagnosis
 Renal disorder76.1 ± 1.3313.0 ± 13.924.5 ± 2.1
 Delayed secondary sex characteristics3616.3 ± 2.300
 Hypospadias or aplasia of testis015.00
 Abdominal pain or mass611.3 ± 3.400
 Others43.0 ± 4.2414.5 ± 5.0215.0c
 No description1904
n (%)n (%)n (%)
WT1 mutation
 IVS9 −1A→G01 (10)0
 IVS9 +1G→A2 (4)00
 IVS9 +2T→C2 (4)00
 IVS9 +4 C→T17 (34)5 (50)1 (12.5)
 IVS9 +5 G→A27 (55)2 (20)7 (87.5)
 IVS9 +6 T→A1 (2)00
 No description23d00
Gonadal tumorSee Table 2 for detailsSertoli cell tumor and seminoma (n = 1); ITGCN (n = 1); Gonadoblastoma (n = 1)No gonadal tumor reported
  • aFeatures including proteinuria, nephrotic syndrome, hypertension, and edema.

  • bFeatures including primary amenorrhea and delayed puberty.

  • cAge was available in one case.

  • dNo description was excluded in the percentage.