Table 1

Disorder of sex development (DSD) diagnoses of participants in the study (n=115)

DSD diagnosisAge
Sex chromosome DSDPatients with 45, X/46, XY; 46, XidicY; 46, XX/46, XY;
46, XX/47, XXY
46, XY DSDAIS*55616
Gonadal dysgenesis†621018
46, XX DSDCAH-SV§182424
Gonadal dysgenesis†11
Cloacal malformation11
  • *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