Table 5.

Comparison of targeted panel sequencing group (group TPS) and whole-exome sequencing group (group WES) in our cohort.

Features	TPS (n = 92)	WES (n = 86)	P-value
Clinical manifestation
Age (years)	8.00 (1.58, 12.00)	8.67 (3.23, 11.79)	0.808
Micropenis, %	50.00%	63.95%	0.060
Cryptorchidism, %	32.61%	36.06%	0.629
Hypospadia, %	19.57%	15.12%	0.434
Genetic characteristics
Diagnosis rate, % (n/N)	57.61% (53/92)	40.70% (35/86)	0.024a
Pathogenic mutation, % (n/N)	39.68% (25/63)	45.00% (18/40)	0.594
Likely pathogenic mutation, % (n/N)	33.33% (21/63)	37.50% (15/40)	0.666
VUS mutation, % (n/N)	25.87% (18/63)	15.00% (6/40)	0.267
De novo mutation, % (n/N)	6.34% (4/63)	32.50% (13/40)	0.001a
Missense mutation, % (n/N)	71.43% (45/63)	72.50% (29/40)	0.906
Nonsense mutation, % (n/N)	11.11% (7/63)	5.00% (2/40)	0.284
Deletion mutation, % (n/N)	15.87% (10/63)	20.00% (8/40)	0.591

Subjects between 2016 and 2018 (n = 92) underwent targeted gene panel sequencing (group TPS), those between 2019 and 2022 (n = 86) underwent whole-exome sequencing (group WES). We compared the characteristics of these two groups to both clinical phenotype and genetic degrees. ^*aSignificant difference between group TPS and group WES, P value by the Pearson Chi-square, P < 0.05 was considered statistically significant.

^aSignificant difference between group TPS and group WES, P-value by the Pearson chi-square, P < .05 was considered statistically significant.