Table 1.

Clinical phenotype and biomarkers of NGS-positive subjects (n = 64).

Clinical characteristics	NGS-positive subjects (n = 64)	Primary group (n = 48)	Central group (n = 16)	P-valuea
Age (years)	4.00 (0.87, 10.00)	2.92 (0.67, 7.33)	7.88 (2.69, 12.07)	0.033
Micropenis, %	59.38%	54.17%	75.00%	0.142
Cryptorchidism, % (unilateral or bilateral)	50.00%	52.08%	43.76%	0.774
Hypospadias, n/N (%)	21.88%	27.08%	6.25%	0.159
Olfactory disorder, % (n/N)	NA	NA	62.50%	/
Other phenotypes	Prepenile scrotum, bifid scrotum, ambiguous external genitalia, penile curvature, blind perineal pouch resembling vagina, female external genitalia, transverse testicular ectopic, persistent Müllerian duct syndrome, gonadal dysplasia, enlarged clitoris, gynecomastia.	Prepenile scrotum, bifid scrotum, ambiguous external genitalia, penile curvature, blind perineal pouch resembling vagina, female external genitalia, transverse testicular ectopic, persistent Müllerian duct syndrome, gonadal dysplasia, enlarged clitoris, gynecomastia.	Intellectual disability, delayed motor development, skeletal deformity, bilateral pinky joint malformation, brain structure abnormalities, and hearing disorders	/
Average testis volume (mL)	1.00 (1.00, 2.00) (n = 47)	1.00 (1.00, 2.00) (n = 33)	1.00 (1.00, 3.00) (n = 16)	0.384
Stretched penis length (cm)	3.00 (1.00, 3.45) (n = 48)	3.00 (1.50, 3.50) (n = 34)	2.75 (2.00, 3.00) (n = 16)	0.643
Testosterone (ng/ml)	0.11 (0.09, 0.24) (n = 51)	0.12 (0.09, 0.66) (n = 35)	0.11 (0.09, 0.12) (n = 16)	0.652
DHT (pg/mL)	70.18 (40.85, 133.91) (n = 51)	54.85 (34.98, 110.32) (n = 35)	132.87 (66.65, 145.52) (n = 14)	0.001
FSH (mIU/mL)	2.77 (1.57, 4.88) (n = 51)	3.31 (1.78, 6.79) (n = 35)	0.91 (0.43, 1.71) (n = 16)	0.089
LH (mIU/mL)	0.80 (0.29, 2.07) (n = =51)	0.88 (0.30, 2.63) (n = 35)	0.19 (0.08, 0.31) (n = 16)	0.075

Sixty-fout subjects with pathogenic/likely pathogenic variants in this cohort were classified as NGS positive and were further divided into primary cause group (n = 48) and central cause group (n = 16) according to clinical diagnosis. The phenotypes (cryptorchidism, micropenis, and hypospadias), physical examination (testicular volume and penis length), concentrations of testosterone, estrogen, FSH, and LH in serum or plasma, and other clinical or laboratory findings are listed separately.

^aThe Mann–Whitney U-test and chi-square test were used between primary and central groups. P < .05 was considered statistically significant.