Characteristics of study cohort
| Variables, n (%) | Whole cohort (n=160) |
| Associated genital malformations | |
| Yes | 160 (100) |
| No | 0 (0) |
| Additional extragenital malformations | |
| Yes | 63 (39) |
| No | 97 (61) |
| Age at first operation | |
| <12 months | 7 (4) |
| 12–24 months | 119 (74) |
| >24 months | 33 (21) |
| Unknown | 1 (1) |
| Type of procedure | |
| Single stage repair | 58 (36) |
| Staged repair | 102 (64) |
| Reoperation | |
| Yes | 75 (47) |
| No | 85 (53) |
| Genetic evaluation | |
| Yes | 135 (84) |
| No | 20 (13) |
| Unknown | 5 (3) |
| Endocrine evaluation | |
| Yes | 142 (88) |
| Basal testosterone | 136 (96) |
| Basal LH/FSH | 104 (73) |
| Testosterone post hCG stimulation | 87 (61) |
| AMH | 81 (57) |
| LHRH test | 55 (39) |
| Inhibin B | 10 (7) |
| No | 9 (6) |
| Unknown | 9 (6) |
| Family history | |
| Yes | 22 (14) |
| No | 138 (86) |
| Disorder type | |
| Non-specific XY DSD | 101 (63) |
| Disorders of androgen synthesis | 30 (19) |
| 5α-RD2 deficiency | 12 (40) |
| 3β-HSD deficiency | 6 (20) |
| 17β HSD3 deficiency | 5 (17) |
| POR deficiency | 4 (13) |
| 17α-OHD deficiency | 2 (7) |
| 17,20 lyase deficiency | 1 (3) |
| Disorders of androgen action | 22 (12) |
| PAIS | 22 (100) |
| Disorders of gonadal development | 9 (6) |
| PGD | 9 (100) |
AMH, anti-Müllerian hormone; DSD, disorders of sex development; FSH, follicle stimulating hormone; hCG, human chorionic gonadotrophin; LH, luteinizing hormone; LHRH, luteinizing hormone releasing hormone; PAIS, partial androgen insensitivity syndrome; PDG, partial gonadal dysgenesis; POR deficiency, cytochrome P450 oxidoreductase deficiency; 17α-OHD deficiency, 17-alphahydroxylase deficiency; 5α-RD2 deficiency, 5-alpha-reductase type 2 deficiency; 3β-HSD deficiency, 3-beta-hydroxysteroid dehydrogenase deficiency; 17β HSD3 deficiency, 17-beta-hydroxysteroid dehydrogenase type 3 deficiency.