Table 1.

Clinical characteristics of patients in our cohort

	Patients, n(%)	Trios/duos, n	Singletons, n
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

Note The diagnostic rate for each phenotype was calculated by dividing the number of positive samples by the total number of patients with that phenotype