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

Disorders		Mechanism of hypocalcemia	Laboratory findings
			Serum PTH	Serum Calcium	Serum Phosphate	Other findings
Acrodysostosis	Acrodysostosis type 1	Genetic defect causing end organ resistance to the action of parathyroid hormone (PTH). PRKAR1A germ-line mutation in the encoding gene resulting in parathyroid resistance	↑	↓	↑	Multiple hormone resistance
	Acrodysostosis type 2	Genetic defect causing end organ resistance to the action of parathyroid hormone (PTH). Phosphodiesterase 4D (PDE4D) gene mutation resulting in parathyroid resistance	↑	↓	↑	Multiple hormone resistance
Blomstrand chondrodysplasia		Genetic defect causing end organ resistance to the action of parathyroid hormone (PTH). Homozygous or heterozygous mutations in both alleles encoding the type 1 parathyroid hormone receptor resulting in parathyroid resistance	↑	↓	↑	↓ Urinary Phosphate, ↑ Urinary cAMP

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