Skip to main content

Table2 Laboratory, imaging findings and molecular analysis of 11 patients with PHP

From: Evaluating the variety of GNAS inactivation disorders and their clinical manifestations in 11 Chinese children

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
  1. NA Not available