Table 1 Historical Classification of PHP and PHP-related disorders
AHO | Hormone resistance | Heterotopic ossification | PTH test response | GNAS defect | |
|---|---|---|---|---|---|
PHP-Ia | Yes | Multiple: PTH, TSH, FSH/LH, GHRH | Yes, superficial | ↓cAMP ↓phosphaturia | Maternal inactivating mutations |
PPHP | Yes | No | Yes, superficial | Normal | Paternal inactivating mutations |
PHP-Ib | No | PTH, TSH | No | ↓cAMP ↓phosphaturia | Imprinting dysregulation |
PHP-Ic | Yes | Multiple: PTH, TSH, FSH/LH | Yes, superficial | ↓cAMP ↓phosphaturia | Maternal inactivating mutations |
POH | No | No | Yes, deep | NA | Paternal inactivating mutations |