Table2 Laboratory, imaging findings and molecular analysis of 11 patients with PHP
Patient | Sub type | Calcium (mmol/L) | Phosphorus (mmol/L) | PTH (pg/ml) | TSH (uIU/ml) | ACTH (pg/mL) | IGF-1 (ng/ml) | Hormonal resistance | Imaging finding | GNAS abnormality | Inheritance |
|---|---|---|---|---|---|---|---|---|---|---|---|
P1 | PHP1a | 2.7 | 1.9 | 309 | 12.0 | 29.5 | 114 | PTH, TSH | Normal | c.212 + 3_212 + 6delAAGT | maternal |
P2 | PHP1a | 2.3 | 1.7 | 124.3 | 4.7 | NA | 486 | PTH | NA | c.314C > T (p.T105I) | De novo |
P3 | PHP1a | 1.3 | 3.2 | 172 | 8.8 | 12.1 | 378 | PTH, TSH | calcification | c.565_568delGACT (p.D189Mfs*14) | maternal |
P4 | PHP1a | 1.8 | 2.9 | 110.3 | 6.8 | 34.9 | NA | PTH, TSH | Extracerebral space enlargement | c.1123G > T(p.V375L) | maternal |
P5 | PHP1a | 2.1 | 2.4 | 728.8 | 7.2 | NA | 128 | PTH, TSH | NA | c.565_568delGACT (p.D189Mfs*14) | NA |
P6 | PHP1a | 2.3 | 1.9 | 282.6 | 5.8 | NA | 136 | PTH, TSH | calcification | c.432 + 1G > A | De novo |
P7 | PHP1b | 1.5 | 3.3 | 506.2 | 2.4 | 17.1 | 199 | PTH | Normal | XLas, NESPAS | NA |
P8 | PHP1b | 1.4 | 2.2 | 638.4 | 2.3 | 10.1 | 61.2 | PTH | Normal | XLas, AS | NA |
P9 | PPHP | 2.5 | 1.4 | 41.9 | 2.1 | 8.9 | 161 | NO | Normal | c.308 T > C(p.I103T) | De novo |
P10 | POH | 2.4 | 1.6 | 50.1 | 2.2 | 10.6 | NA | NO | Normal | c.721 + 1G > A | De novo |
P11 | POH | 2.5 | 2.0 | 42.6 | 1.4 | 10.3 | NA | NO | Normal | c.74delA, p.K25Rfs*33 | De novo |