408 Cases of Genital Ambiguity Followed by Single Multidisciplinary Team during 23 Years: Etiologic Diagnosis and Sex of Rearing
Table 1
Frequencies of etiological diagnosis in 408 consecutive cases of DSD with ambiguous genitalia followed at GIEDDS, UNICAMP, between January 1989 and December 2011.
Syndromic diagnosis
Etiologic diagnosis
46,XX ovarian DSD
Congenital adrenal hyperplasia
69
16.9
65.7
Isolated clitoromegaly
19
4.7
18.1
Syndromic
10
2.5
9.5
Teratogeni
2
0.5
1.9
Idiopathic
5
1.2
4.8
Total
105
25.8
100.0
46,XY testicular DSD
Hypogonadotropic hypogonadism
12
2.9
6.3
Defect in the LH/hCG receptor
2
0.5
1.1
Synthesis of testosterone defect
4
1.0
2.1
Androgen insensitivity
Total
15
3.7
7.9
Partial
10
2.5
5.3
5α-Reductase type 2 deficiency
20
4.9
10.6
Muller duct persistence
4
1.0
2.1
Teratogenic1
5
1.2
2.6
Syndromic
40
9.8
21.2
Idiopathic
77
18.8
40.8
Total
189
46.3
100.0
Disorders of gonadal development
Ovotesticular DSD
22
5.4
23.1
Mixed gonadal dysgenesis
25
6.1
26.3
Partial gonadal dysgenesis
SRY mutation
2
0.5
2.1
WT1 mutation
5
1.2
5.3
NR5A1 mutation
9
2.3
9.5
No defined cause
22
5.4
23.1
46,XX testicular DSD
3
0.7
3.2
Testicular regression syndrome
7
1.7
7.4
Total
95
23.3
100.0
Others
Epispadias
4
1.0
21.0
Penis malformation
5
1.2
26.3
Clitoris malformation
6
1.5
31.7
Multiple malformations
4
1.0
21.0
Total
19
4.7
100.0
= relative frequency (%) in relation to the total number of cases of genital ambiguity (408); = relative frequency (%) in the number of cases of the diagnostic group (105 46,XX ovarian DSD; 189 46,XY testicular DSD; 95 DDG and 19 others); = use of drugs by the mother during pregnancy.
