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 |
Abbreviations: cAMP cyclic AMP; GHRH, GH releasing hormone; PTH parathyroid hormone, TSH thyroid-stimulating hormone, FSH/LH Follicle Stimulating Hormone/Luteinizing Hormone; POH progressive osseus heteroplasia