Table 1 Clinical characteristics of patients in our cohort

Age

3.5 ± 3(Years)

Minipubertal age (< 6 months)

54

26

28

Prepubertal age (6 months-9 years)

294

164

130

Pubertal age (9–18 years)

54

27

27

total

402

217

185

Ethnicity

Han

395(98.3%)

Others

7(1.7%)

Clinical diagnosis

Gonadal dysgenesis(GD)

10(2.5%)

2

8

5α-reductase 2 defciency

6(1.5%)

5

1

Androgen insensitivity(AIS)

3(0.7%)

0

3

46 XY, DSD of clinically unknown etiology

Hypospadias

91(22.5%)

52

39

Hypospadias, Micropenis

4(1.2%)

1

3

Hypospadias, Cryptorchidism

6(1.5%)

1

5

Cryptorchidism(bilateral)

12(2.9%)

6

6

Cryptorchidism(right or left )

20(5.1%)

10

10

Cryptorchidism, Micropenis

12(2.9%)

6

6

Micropenis

205(50.6%)

120

85

Ambiguous genitalia

2(0.5%)

0

2

Ambiguous genitalia, Hypospadias

5(1.5%)

2

3

Hypospadias, gonadal dysgenesis

3(0.7%)

0

3

CHD with DSD-related phenotype

10(2.4%)

7

3

Growth retardation with DSD-related phenotype

3(0.7%)

1

2

Hypospadias with other malformations

6(1.5%)

2

4

Micropenis with other malformations

3(0.7%)

2

1

Cryptorchidism with other malformations

1(0.2%)

0

1

total

402

217

185