Table 1.
Clinical diagnosis of patients with DSDa
| Identification | Clinical diagnosis | Genetic diagnosis known (Y/N) |
Genetic diagnosis identified by targeted sequencing (Y/N) |
|---|---|---|---|
| 46, XY male | Control XY male | – | – |
| 46, XX female | Control XX female | – | – |
| 47, XXY KS | Klinefelter syndrome | Y | Y |
| 45, XO TS | Turner syndrome | Y | Y |
| DSDPt1 | 5-Alpha reductase deficiency | N | Y (SRD5A2, E200K) |
| DSDPt2 | 46, XY gonadal dysgenesis | Y [NROB1 (DAX1) duplication] | Y |
| DSDPt3 | 46, XY gonadal dysgenesis | Y (SRY, Y127C) | Y |
| DSDPt4 | 46, XY gonadal dysgenesis + campomelic dysplasia |
N | N |
| DSDPt5 | 46, XY gonadal dysgenesis + galactosemia | N | N |
| DSDPt6 | 46, XX testicular DSD | N | N |
| DSDPt7 | 46, XY DSD | Y (AR, M788T) | Y |
| DSDPt8 | 46, XY female + AHC | Y (DAX1, Y121*) | Y |
| DSDPt9 | 46, XY DSD severe combined adrenal and gonadal deficiency |
Y (CYP11A1) | Y |
| DSDPt10 | 46, XX testicular DSD | N | N |
| DSDPt11 | 46, XY gonadal dysgenesis | N | N |
| DSDPt12 | 46, XY gonadal dysgenesis | N | Y (ATRX, K1045E) |
AHC, adrenal hypoplasia congenita; DSD, disorders of sex development; N, no; Y, yes.
a
All patients in this study were clinically diagnosed with a DSD.