Patient | Sex | Age at diagnosis (years.months) | Symptoms at diagnosis | SD | FD | PPP | Other endocrinopathies | Genetic analysis |
---|---|---|---|---|---|---|---|---|
1 | F | 5 | Breast development | + | + | + | NA | |
2 | F | 6 | Orbital area swelling, left | - | + | + | NA | |
3 | M | 5.3 | Pathological fracture, right femur | + | + | - | GHHb | Detected, bloodc (Arg201His) |
4 | M | 1.9 | Pathological fracture, left femur | + | + | - | HT, HP | Detected, bloodc (Arg201His) |
5 | F | 9 | Forehead swelling, left | + | + | +a | ND | |
6 | F | 11 | Vaginal bleeding | + | + | + | ND | |
7 | F | 3.4 | Vaginal bleeding | + | + | + | NA | |
8 | F | 6.7 | Vaginal bleeding | - | + | +a | ND | |
9 | F | 3 | Vaginal bleeding | + | + | + | ND | |
10 | F | 1.6 | Vaginal bleeding | + | + | + | HT, HP | NA |
11 | F | 7.1 | Exophthalmos, left | + | + | +a | NA | |
12 | M | 16 | Headache | - | + | - | GHHb | Detected, pituitary adenoma (Arg201Cys) |
13 | F | 4 | Vaginal bleeding | - | + | + | NA | |
14 | F | 3.1 | Vaginal bleeding | + | - | + | ND |