Disorder of sex development (DSD) diagnoses of participants in the study (n=115)
| DSD diagnosis | Age | ||||
| 6–11 | 12–17 | 18+ | Total | ||
| Sex chromosome DSD | Patients with 45, X/46, XY; 46, XidicY; 46, XX/46, XY; 46, XX/47, XXY | 6 | 3 | 5 | 14 |
| 46, XY DSD | AIS* | 5 | 5 | 6 | 16 |
| Gonadal dysgenesis† | 6 | 2 | 10 | 18 | |
| Hypomasculinisation‡ | 25 | 9 | 7 | 41 | |
| 46, XX DSD | CAH-SV§ | 18 | 2 | 4 | 24 |
| Gonadal dysgenesis† | – | – | 1 | 1 | |
| Cloacal malformation | – | – | 1 | 1 | |
| Total | 60 | 21 | 34 | 115 | |
*Androgen insensitivity syndrome. Androgen receptor gene mutation was confirmed.26
†Abnormal hormonal testicular function with unilaterally/bilaterally undescended testes. The clinical and biochemical presentation suggest gonadal dysfunction. Serum levels of luteinising hormone and follicle stimulating hormone were elevated but testosterone, anti-Müllerian hormone and inhibin are low for age, and no or diminished serum testosterone response to human chorionic gonadotropin.
‡46, XY karyotype with hypomasculinisation of unknown cause, despite extensive analysis.26
§Congenital adrenal hyperplasia simple virilising type. CYP 21 mutation was confirmed.26
Details on diagnosis and degree of masculinisation at admission per patient can be found in Ediati et al.14 24