Pseudohypoparathyroidism differential diagnosis

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

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Differentiating Pseudohypoparathyroidism from other Diseases

Diseases with similar symptoms

• Hypoparathyroidism
• Rickets

colspan="2" rowspan="2"	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
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	↑	↓	↑	} References Template:WikiDoc Sources