Table 2.
Clinical Characteristics of CAH Probands Aged 7–35 Years Old According to TNXB Haploinsufficiency Carriership
| Variable | CAH-X (n = 13) | CAH Control (n = 103) | P Value |
|---|---|---|---|
| Age (mean ± sd) | 18.4 ± 8.9 | 17.0 ± 7.8 | .55 |
| Females [no. (%)] | 7 (53.8) | 59 (57.3) | 1.00 |
| Joints | |||
| Generalized joint hypermobility [no. (%)]a | 8 (61.5) | 14 (13.6) | <.001 |
| Hypermobility of large joints [no. (%)]b | 6 (46.2) | 5 (4.9) | <.001 |
| Hypermobility of small joints [no. (%)]c | 7 (53.8) | 18 (17.5) | .007 |
| More than 1 joint dislocation [no. (%)] | 3 (23.1) | 1 (0.97) | .004 |
| Arthralgia 4 or more joints [no. (%)]d | 4 (30.8) | 3 (2.9) | .003 |
| Arthralgia 1–3 joints or back pain [no. (%)]d | 4 (30.8) | 5 (4.9) | .009 |
| Skin | |||
| Easy bruising [no. (%)] | 6 (46.2) | 25 (24.3) | .11 |
| Loose skin [no. (%)] | 1 (7.7) | 0 | .11 |
| Striae [no. (%)] | 3 (23.1) | 18 (17.5) | .70 |
| Widened scar [no. (%)] | 4 (30.8) | 5 (4.9) | .009 |
| Androgenic alopecia (females) [no. (%)] | 2 (15.4) | 4 (6.8) | .14 |
a
Generalized hypermobility was defined as a Beighton score 5 of 9 or greater for children and 4 of 9 or greater for postpubertal adolescents and adults.
b
Hypermobility of large joints was defined as hypermobility of large joints not assessed in Beighton, shoulder, and hip.
c
Hypermobility of small joints defined as hypermobility of the hands or feet.
d
Arthralgia and back pain is of at least 3 months' duration.