Table 2.
PTH resistance differential diagnosis.
| 25-OH-vitamin D levels | Kidney function | AHO | Erythrocyte Gsα activity | cAMP urinaryresponse to PTH | Multi-hormone resistance | Gene involved | |
|---|---|---|---|---|---|---|---|
| iPPSD2 | Normal | Normal | + | ↓ | ↓ | + | GNAS (genetic defect) |
| iPPSD3 | Normal | Normal | ± | Normal/↓ | ↓ | ± | GNAS (epigenetic defect) |
| iPPSD4 | Normal | Normal | ± | Normal | Normal | ± | PRKAR1A |
| iPPSD5 | Normal | Normal | ± | Normal | Normal | ± | PDE4D |
| Vitamin D deficiency | ↓ | Normal | – | n.a. | n.a. | n.a. | n.a. |
| Worsening of chronic kidney disease | Normal | ↓ | – | n.a. | n.a. | n.a. | n.a. |
PTH, parathyroid hormone; AHO, Albright’s hereditary osteodystrophy; cAMP, cyclic adenosine monophosphate; iPPSD, inactivating PTH/PTHrP signalling disorder; +, present; ↓, low; ±, not alway present; -, absent; n.a., not applicable.