Table 1.
Prevalence of the clinical phenotypes of the cases.
| Clinical phenotype | N (%) | Number of cases per type of mutation | |||
|---|---|---|---|---|---|
| Frameshift | Deletion | Missense | Nonsense | ||
| Hyperphagia | 66 (100%) | 39 | 4 | 20 | 3 |
| Hyperinsulinemia | 25 (38%) | 12 | 1 | 9 | 3 |
| Hypothyroidism | 6 (9%) | 3 | 2 | 1 | 0 |
| Serum lipid disorders | 9 (14%) | 4 | 1 | 4 | 0 |
| History of inflammatory disorders | 6 (9%) | 4 | 0 | 1 | 1 |
| CD4+ lymphocytopenia | 2 (3%) | 2 | 0 | 0 | 0 |
| Advanced bone age | 2 (3%) | 2 | 0 | 0 | 0 |
| Elevated cortisol | 18 (27%) | 12 | 2 | 4 | 0 |
| Hypertension | 4 (6%) | 1 | 0 | 3 | 0 |
| Fatty liver | 3 (5%) | 0 | 1 | 2 | 0 |
| Elevated liver enzymes | 2 (3%) | 0 | 1 | 1 | 0 |
| Hyperglycaemic | 1 (2%) | 0 | 0 | 1 | 0 |
| Amenorrhoeic | 4 (6%) | 0 | 0 | 4 | 0 |
| Hypogonadotropic hypogonadism | 5 (8%) | 0 | 0 | 4 | 1 |
| Sympathetic system dysfunction | 4 (6%) | 0 | 0 | 4 | 0 |
| Acanthosis nigricans | 3 (5%) | 0 | 0 | 3 | 0 |