Pseudohypoparathyroidism differential diagnosis: Difference between revisions
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==Overview== | ==Overview== | ||
Pseudohypoparathyroidism can be differentiated from other causes of [[increased parathyroid hormone]]( PTH) and [[parathyroid hormone]] resistance like Blomstrand chondrodysplasia,[[acrodysostosis]],[[hypomagnesemia]],[[hypoparathyroidism]] and [[hyperparathyroidism]]. | 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== | ==Differentiating Pseudohypoparathyroidism from other Diseases== | ||
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*Pseudohypoparathyroidism can be differentiated from other causes of increased [[parathyroid hormone]]( PTH) and [[parathyroid hormone]] resistance like Blomstrand chondrodysplasia,[[acrodysostosis]],[[hypomagnesemia]],[[hypoparathyroidism]] and [[hyperparathyroidism]].<ref name="pmid23076042">{{cite journal |vauthors=Levine MA |title=An update on the clinical and molecular characteristics of pseudohypoparathyroidism |journal=Curr Opin Endocrinol Diabetes Obes |volume=19 |issue=6 |pages=443–51 |year=2012 |pmid=23076042 |pmc=3679535 |doi=10.1097/MED.0b013e32835a255c |url=}}</ref><ref name="pmid21816789">{{cite journal |vauthors=Mantovani G |title=Clinical review: Pseudohypoparathyroidism: diagnosis and treatment |journal=J. Clin. Endocrinol. Metab. |volume=96 |issue=10 |pages=3020–30 |year=2011 |pmid=21816789 |doi=10.1210/jc.2011-1048 |url=}}</ref><ref name="pmid25891861">{{cite journal |vauthors=Lee S, Mannstadt M, Guo J, Kim SM, Yi HS, Khatri A, Dean T, Okazaki M, Gardella TJ, Jüppner H |title=A Homozygous [Cys25]PTH(1-84) Mutation That Impairs PTH/PTHrP Receptor Activation Defines a Novel Form of Hypoparathyroidism |journal=J. Bone Miner. Res. |volume=30 |issue=10 |pages=1803–13 |year=2015 |pmid=25891861 |pmc=4580526 |doi=10.1002/jbmr.2532 |url=}}</ref><ref name="pmid227929">{{cite journal |vauthors=Freitag JJ, Martin KJ, Conrades MB, Bellorin-Font E, Teitelbaum S, Klahr S, Slatopolsky E |title=Evidence for skeletal resistance to parathyroid hormone in magnesium deficiency. Studies in isolated perfused bone |journal=J. Clin. Invest. |volume=64 |issue=5 |pages=1238–44 |year=1979 |pmid=227929 |pmc=371269 |doi=10.1172/JCI109578 |url=}}</ref> | *Pseudohypoparathyroidism can be differentiated from other causes of increased [[parathyroid hormone]]( PTH) and [[parathyroid hormone]] resistance like Blomstrand chondrodysplasia, [[acrodysostosis]], [[hypomagnesemia]], [[hypoparathyroidism]] and [[hyperparathyroidism]].<ref name="pmid23076042">{{cite journal |vauthors=Levine MA |title=An update on the clinical and molecular characteristics of pseudohypoparathyroidism |journal=Curr Opin Endocrinol Diabetes Obes |volume=19 |issue=6 |pages=443–51 |year=2012 |pmid=23076042 |pmc=3679535 |doi=10.1097/MED.0b013e32835a255c |url=}}</ref><ref name="pmid21816789">{{cite journal |vauthors=Mantovani G |title=Clinical review: Pseudohypoparathyroidism: diagnosis and treatment |journal=J. Clin. Endocrinol. Metab. |volume=96 |issue=10 |pages=3020–30 |year=2011 |pmid=21816789 |doi=10.1210/jc.2011-1048 |url=}}</ref><ref name="pmid25891861">{{cite journal |vauthors=Lee S, Mannstadt M, Guo J, Kim SM, Yi HS, Khatri A, Dean T, Okazaki M, Gardella TJ, Jüppner H |title=A Homozygous [Cys25]PTH(1-84) Mutation That Impairs PTH/PTHrP Receptor Activation Defines a Novel Form of Hypoparathyroidism |journal=J. Bone Miner. Res. |volume=30 |issue=10 |pages=1803–13 |year=2015 |pmid=25891861 |pmc=4580526 |doi=10.1002/jbmr.2532 |url=}}</ref><ref name="pmid227929">{{cite journal |vauthors=Freitag JJ, Martin KJ, Conrades MB, Bellorin-Font E, Teitelbaum S, Klahr S, Slatopolsky E |title=Evidence for skeletal resistance to parathyroid hormone in magnesium deficiency. Studies in isolated perfused bone |journal=J. Clin. Invest. |volume=64 |issue=5 |pages=1238–44 |year=1979 |pmid=227929 |pmc=371269 |doi=10.1172/JCI109578 |url=}}</ref> | ||
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! colspan="8" style="background: #4479BA; text-align: center;" |{{fontcolor|#FFF|Differential diagnosis of Pseudohypoparathyroidism}} | ! colspan="8" style="background: #4479BA; text-align: center;" |{{fontcolor|#FFF|Differential diagnosis of Pseudohypoparathyroidism}} | ||
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mazia Fatima, MBBS [2]
Overview
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
- Pseudohypoparathyroidism can be differentiated from other causes of increased parathyroid hormone( PTH) and parathyroid hormone resistance like Blomstrand chondrodysplasia, acrodysostosis, hypomagnesemia, hypoparathyroidism and hyperparathyroidism.[1][2][3][4]
| 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 | -- | ||
| Hypoparathyroidism |
|
↓ | ↓ | ↑ | |||
| 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 |
|
↑ | ↑ | ↑ |
-- | ||
References
- ↑ 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.
- ↑ 2.0 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.
- ↑ 3.0 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.
- ↑ 4.0 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.
- ↑ 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.