Pseudohypoparathyroidism Differential Diagnoses

Updated: Sep 17, 2017
  • Author: Mini R Abraham, MD; Chief Editor: George T Griffing, MD  more...
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Diagnostic Considerations

There have been case reports of vitamin D deficiency mimicking pseudohypoparathyroidism (PHP). The clinical presentation and biochemical features of stage 1 vitamin D deficiency rickets (VDR) and PHP type 2 are quite similar.

Mahmud et al described 2 sisters who were initially identified as having paroxysmal dyskinesia, but who, on subsequent testing, showed hypocalcemia, hyperphosphatemia, and elevated PTH levels consistent with PHP type 1b. [18]

Other conditions to consider in the differential diagnosis of PHP include secondary hyperparathyroidism and autoimmune polyglandular syndromes. Some forms of PHP may remain unnoticed or undiagnosed if patients do not have hypocalcemia and/or features of Albright hereditary osteodystrophy (AHO).