Pseudohypoparathyroidism differential diagnosis
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Differentiating Pseudohypoparathyroidism from other Diseases |
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
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Overview
Differentiating Pseudohypoparathyroidism from other Diseases
Diseases with similar symptoms
- Hypoparathyroidism
- Rickets {| class="wikitable" | colspan="2" rowspan="2" |Disorders | rowspan="2" |Mechanism of hypocalcemia | colspan="4" |Laboratory findings |- |Serum PTH |Serum Calcium |Serum Phosphate |Other findings |- | rowspan="2" |Acrodysostosis |Acrodysostosis type 1 |PRKAR1A germ-line mutation in the encoding gene resulting in parathyroid resistance |↑ |↓ |↑ |Multiple hormone resistance |- |Acrodysostosis type 2 |Phosphodiesterase 4D (PDE4D) gene mutation resulting in parathyroid resistance |↑ |↓ |↑ |Multiple hormone resistance |- | colspan="2" |Blomstrand chondrodysplasia |Homozygous or heterozygous mutations in both alleles encoding the type 1 parathyroid hormone receptor resulting in parathyroid resistance |↑ |↓ |↑ |↓ Urinary Phosphate, ↑ Urinary cAMP |}