Table 1.
Clinical presentation at diagnosis of 213 patients with 21-hydroxylase deficiency
| SW
|
SV
|
NC
|
||||
|---|---|---|---|---|---|---|
| Clinical presentation | Female (n = 51) | Male (n = 59) | Female (n = 23) | Male (n = 33) | Female (n = 37) | Male (n = 10) |
| Ambiguous genitalia | 42 | 19 | 1 | |||
| Adrenal crisis | 4 | 36 | ||||
| Newborn screening | 2 | 13 | 3 | |||
| Prenatal screening | 3 | 6 | 1 | 1 | ||
| Family history/genetic testing | 4 | 1 | 3 | 8 | 2 | |
| Pubic hair and/or growth spurt | 1 | 27 | 13 | 7 | ||
| Irregular menses ± hirsutism, acne | 13 | |||||
| Infertility | 2 | |||||
| Other | 1a | |||||
a
Diagnosed at age 10 yr with significant virilization.