Table 1 Clinical features of 11 patients with pseudohypoparathyroidism
Patient | Sub type | Gender | Age of onset | At diagnosis | Initial presentation | AHO phenotypes | Family history | |||
|---|---|---|---|---|---|---|---|---|---|---|
Age | Height(cm) | Weight(kg) | BMI | |||||||
P1 | PHP1a | Female | 1.5 y | 2.5 y | 91 (0.5SD) | 20 (4.9SD) | 24.2 | heterotopic ossification | HO, RF, OB, SB | Positive |
P2 | PHP1a | Female | 3 y | 11.8 y | 137.8 (-2.2SD) | 36.8 (-0.6SD) | 19.4 | growth retardation | SS, BR, RF | Negative |
P3 | PHP1a | Male | 11 y | 11.5 y | 133 (-2.2SD) | 36.5 (-0.5SD) | 20.6 | recurrent seizures | SS, BR, MR, HO, RF, SB | Positive |
P4 | PHP1a | Male | 0.5 y | 0.75 y | 69 (-1.4SD) | 8.3 (-1SD) | 17.4 | recurrent seizures | MR, RF, SB | Negative |
P5 | PHP1a | Female | 8 y | 9 y | 120.5 (-2.4SD) | 23.6 (-1.1SD) | 15.3 | growth retardation | SS, BR, RF | Negative |
P6 | PHP1a | Female | 3 y | 7.8 y | 116.8 (-2.7) | 30.9 (1.9SD) | 22.6 | growth retardation | SS, BR, MR, RF, OB, SB | Negative |
P7 | PHP1b | Male | 13.6 y | 14 y | 157 (-1.2SD) | 44.2 (-0.9SD) | 17.9 | recurrent seizures | NO | Negative |
P8 | PHP1b | Female | 2.3 y | 3.5 y | 102 (0.7SD) | 17 (1.5SD) | 16.3 | recurrent seizures | NO | Negative |
P9 | PPHP | Male | 3 y | 10.3 y | 129.5 (-2.1SD) | 24.2 (1.8SD) | 14.4 | growth retardation | SS, BR, HO, OB, SB | Negative |
P10 | POH | Male | newborn | 0.8 y | 67 (-2.7SD) | 6.8 (-2.8SD) | / | heterotopic ossification | HO, | Negative |
P11 | POH | Male | newborn | 0.5 y | 65 (-1.4SD) | 6.7 (-1.8SD) | / | heterotopic ossification | HO | Negative |