Table 3:
Patient | Gender | CAH phenotype | Musculo-skeletal manifestations | Cutaneous manifestations | Gastrointestinal manifestations | Cardiac manifestations | Other |
---|---|---|---|---|---|---|---|
CAH-X CH1 | |||||||
| |||||||
P-004 | F | SW | Haematomas | ||||
P-053 | M | NC | |||||
P-098 | F | NC | Dislocations | Cutaneous hypersensitivity | |||
P-134 | M | FH | Dislocations, chronic arthralgia | ||||
P-154 | F | NC | Hypertrophic scar after laparoscopy (cholecystectomy), haematomas in the lower limbs | Normal cardiological evaluation | Pes planus in childhood | ||
| |||||||
SCAH-X CH2 | |||||||
| |||||||
P-032 | F | FH | Perthes disease, Giand lung bulla | ||||
P-041 | M | SW | Chronic arthralgia, dislocations, tendinitis/bursitis/fasciitis | Colitis/proctitis | |||
P-062 | M | SW | Tendonitis/bursitis/fasciitis | ||||
P-074 | F | NC | |||||
P-144 | F | SV | Chronic arthralgia (fingers, knuckles, wrists and in the neck), mild scoliosis, extensor pollicis brevis tendonitis) | Frequent hematomascol | Normal cardiological evaluation |
F, female gender; FH, functional hyperandrogenism; CAH, congenital adrenal hyperplasia; M, male gender; NC, non-classic forms of CAH; SW, classic salt-wasting form; CAH-X, SCAH-X syndrome; SV, classic simple-virilizing form.