Table 3 Clinical features and molecular characterization of patients with GNAS locus altered methylation
Case | Sex | Age | AHO signs | Hormone resistances | GNAS locus methylation alteration |
|---|---|---|---|---|---|
B1 | M | 6.9 | BR, MR, RF | rPTH, rTSH (11) | AB/NESP/AS/XL |
B2 | M | 11.43 | MR (3.5), RF | rPTH | AB/NESP/AS/XL |
B3 | F | 7.5 | -- | rPTH | AB/NESP/AS/XL |
B4 | F | 65 | BR, OB, RF | rPTH, rLH/FSH | AB/NESP/AS/XL |
B5 | F | 5.2 | MR, OB/OW, RF | rPTH, rTSH | AB/NESP/AS/XL |
B6 | F | 9.95 | RF | rPTH | AB/NESP/AS/XL |
B7 | M | 15 | BR | rPTH | AB/NESP/AS/XL |
B8 | F | 13.26 | -- | rPTH | AB/NESP/AS/XL |
B9 | M | 12.13 | -- | rPTH | AB/NESP/AS/XL |
B10 | F | 6.55 | MR, OB/OW | rPTH, rTSH | AB/NESP/AS/XL |
B11 | M | 10.5 | BR, OB/OW, RF | rPTH | AB/NESP/AS/XL |
B12 | M | 37.5 | BR, SS,OB/OW, RF | rPTH | AB/NESP/AS/XL |
B13 | F | 9 | RF | rPTH | AB/NESP/AS/XL |
B14 | F | 0.5 | OB/OW, RF | rPTH, rTSH | AB/NESP/AS/XL |
B15 | M | 12.76 | RF | rPTH | AB/NESP/AS/XL |
B16 | M | 12.23 | BR | rPTH | AB/NESP/AS/XL |
B17 | M | 12 | BR, OB, RF | rPTH, rTSH | AB/NESP/AS/XL |
B18 | M | 16 | BR*, OB/OW, RF | rPTH, rGHRH | AB/NESP/AS/XL |
B19 | F | 4 | BR*, OB/OW, RF | rPTH, rTSH | AB/NESP/AS/XL |
B20 | F | 4.16 | MR, OB/OW, RF | rPTH, rTSH | AB/NESP/AS/XL |
B21 | F | 10.09 | RF | rPTH, rTSH | AB/NESP/AS/XL |
B22 | F | 7,41 | BR | rPTH | AB/NESP/AS/XL |
B23 | F | 5.5 | BR, MR, RF | rPTH | AB/NESP/AS/XL |
B24 | F | 23.5 | BR, MR | rPTH | AB/NESP/AS/XL |
B25 | F | 3.06 | BR | rPTH, rTSH (6) | AB/NESP/AS/XL |
B26 | M | 29 | BR*, OB/OW | rPTH | Del at STX16 gene |
B27 | M | 12.9 | -- | rPTH | Del at STX16 gene |
B28 | F | 19.6 | SS, OB/OW, RF | rPTH | Del at STX16 gene |