Pseudohypoparathyroidism differential diagnosis

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mazia Fatima, MBBS [2]


Pseudohypoparathyroidism can be differentiated from other causes of increased parathyroid hormone( PTH) and parathyroid hormone resistance like Blomstrand chondrodysplasia, acrodysostosis, hypomagnesemia, hypoparathyroidism and hyperparathyroidism.

Differentiating Pseudohypoparathyroidism from other Diseases

Differential diagnosis of Pseudohypoparathyroidism
Disorders Mechanism Laboratory findings
Serum PTH Serum Calcium Serum Phosphate Other findings
Pseudohypoparathyroidism [1][2][3] Type 1a
Type 1b
Type 1c
Type 2
Pseudopseudohypoparathyroidism Normal Normal Normal --
Hypomagnesemia[5][4] Inappropriately Normal/ --
Acrodysostosis Acrodysostosis type 1 Multiple hormone resistance
Acrodysostosis type 2 Multiple hormone resistance
Blomstrand chondrodysplasia Urinary Phosphate, Urinary cAMP
Hyperparathyroidism Primary hyperparathyroidism ↓/Normal Normal/↑ calcitriol
Secondary hyperparathyroidism ↓/Normal --
Tertiary hyperparathyroidism



  1. 1.0 1.1 Levine MA (2012). "An update on the clinical and molecular characteristics of pseudohypoparathyroidism". Curr Opin Endocrinol Diabetes Obes. 19 (6): 443–51. doi:10.1097/MED.0b013e32835a255c. PMC 3679535. PMID 23076042.
  2. 2.0 2.1 Mantovani G (2011). "Clinical review: Pseudohypoparathyroidism: diagnosis and treatment". J. Clin. Endocrinol. Metab. 96 (10): 3020–30. doi:10.1210/jc.2011-1048. PMID 21816789.
  3. 3.0 3.1 Lee S, Mannstadt M, Guo J, Kim SM, Yi HS, Khatri A, Dean T, Okazaki M, Gardella TJ, Jüppner H (2015). "A Homozygous [Cys25]PTH(1-84) Mutation That Impairs PTH/PTHrP Receptor Activation Defines a Novel Form of Hypoparathyroidism". J. Bone Miner. Res. 30 (10): 1803–13. doi:10.1002/jbmr.2532. PMC 4580526. PMID 25891861.
  4. 4.0 4.1 Freitag JJ, Martin KJ, Conrades MB, Bellorin-Font E, Teitelbaum S, Klahr S, Slatopolsky E (1979). "Evidence for skeletal resistance to parathyroid hormone in magnesium deficiency. Studies in isolated perfused bone". J. Clin. Invest. 64 (5): 1238–44. doi:10.1172/JCI109578. PMC 371269. PMID 227929.
  5. Jahnen-Dechent W, Ketteler M (2012). "Magnesium basics". Clin Kidney J. 5 (Suppl 1): i3–i14. doi:10.1093/ndtplus/sfr163. PMC 4455825. PMID 26069819.

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