Table 1.
Clinical manifestations of patients with McCune–Albright syndrome
| 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 |
SD skin dysplasia (café au lait spots), FD fibrous dysplasia, PPP peripheral precocious puberty, GHH growth hormone hypersecretion, HT hyperthyroidism, HP hypophosphatemia, NA not available, ND not detected
a Patients who subsequently developed central precocious puberty
b Patients exhibited a pituitary adenoma by pituitary MRI
c GNAS mutation was detected by MEMO-PCR