Table 1 The clinical manifestations of 46, XY DSD patients with different ages and etiologies
Age | Group | n | Clinical manifestation | EMS M (QL–QU) | HCG—well-responsive n (%) | Androgen therapy # n (%) | Puberty n (%) | |||
|---|---|---|---|---|---|---|---|---|---|---|
Female genital with Labia mass or Cryptorchidis n (%) | *One phenotype n (%) | **Two phenotypes n (%) | ***Three phenotypes n (%) | |||||||
2–7 years (n = 66) | 5α-RD2 | 33 | 7 (21.2%) | 4 (12.1%) | 20 (60.6%) | 2 (6.1%) | 6.0 (3.0–7.0) | 33 (100%) | 33 (100%) | – |
CAIS | 8 | 8 (100%) | 0 | 0 | 0 | 2.0 (0.3–2.0) | – | – | – | |
PAIS | 12 | 1 (8.3%) | 1 (8.3%) | 8 (66.7%) | 2 (16.7%) | 4.5 (3.0–6.4) | 12 (100%) | 12 (100%) | – | |
NR5A1 | 7 | 1 (14.3%) | 0 | 5 (71.4%) | 1 (14.3%) | 6.0 (3.0–7.0) | 7 (100%) | 7 (100%) | – | |
CYP17A1 | 6 | 6 (100%) | 0 | 0 | 0 | 2.0 (2.0–2.3) | 0 | 0 | – | |
8–18 years (n = 46) | 5α-RD2 | 22 | 5 (22.7%) | 0 | 12 (54.5%) | 5 (22.7%) | 5.5 (3.0–7.0) | 22 (100%) | 22 (100%) | 7 (31.8%) |
CAIS | 8 | 8 (100%) | 0 | 0 | 0 | 2.0 (2.0–2.9) | – | – | – | |
PAIS | 8 | 3 (37.5%) | 0 | 5 (62.5%) | 0 | 5.0 (3.0–7.0) | 8 (100%) | 7 (87.5%) | 3 (37.5%) | |
NR5A1 | 5 | 0 | 0 | 2 (40%) | 3 (60%) | 6.0 (5.5–7.2) | 5 (100%) | 5 (100%) | 2 (40.0%) | |
CYP17A1 | 3 | 2 (66.7%) | 0 | 1 (33.3%) | 0 | 2.0 (–) | 1 (33.3%) | 1 (33.3%) | 1 (33.3%) | |