Pseudohypoparathyroidism physical examination: Difference between revisions

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The physical exam findings of pseudohypoparathyroidism, [[acrodysostosis]], [[Chondrodystrophy|Blomstrand's chondrodystrophy]] are as follows:<ref name="pmid28648505">{{cite journal |vauthors=Mantovani G, Elli FM, Corbetta S |title=Hypothyroidism associated with parathyroid disorders |journal=Best Pract. Res. Clin. Endocrinol. Metab. |volume=31 |issue=2 |pages=161–173 |year=2017 |pmid=28648505 |doi=10.1016/j.beem.2017.04.004 |url=}}</ref><ref name="pmid28804209">{{cite journal |vauthors=Ueyama K, Namba N, Kitaoka T, Yamamoto K, Fujiwara M, Ohata Y, Kubota T, Ozono K |title=Endocrinological and phenotype evaluation in a patient with acrodysostosis |journal=Clin Pediatr Endocrinol |volume=26 |issue=3 |pages=177–182 |year=2017 |pmid=28804209 |pmc=5537214 |doi=10.1297/cpe.26.177 |url=}}</ref>
The physical exam findings of pseudohypoparathyroidism, [[acrodysostosis]], [[Chondrodystrophy|Blomstrand's chondrodystrophy]] are as follows:<ref name="pmid28648505">{{cite journal |vauthors=Mantovani G, Elli FM, Corbetta S |title=Hypothyroidism associated with parathyroid disorders |journal=Best Pract. Res. Clin. Endocrinol. Metab. |volume=31 |issue=2 |pages=161–173 |year=2017 |pmid=28648505 |doi=10.1016/j.beem.2017.04.004 |url=}}</ref><ref name="pmid28804209">{{cite journal |vauthors=Ueyama K, Namba N, Kitaoka T, Yamamoto K, Fujiwara M, Ohata Y, Kubota T, Ozono K |title=Endocrinological and phenotype evaluation in a patient with acrodysostosis |journal=Clin Pediatr Endocrinol |volume=26 |issue=3 |pages=177–182 |year=2017 |pmid=28804209 |pmc=5537214 |doi=10.1297/cpe.26.177 |url=}}</ref>
===Appearance of the Patient===
===Appearance of the Patient===
* Patients with pseudohypoparathyroidism type 1a , type 1c and pseudopseudohypoparathyroidism presents by the second decade of life with characteristic physical features of [[Albright's hereditary osteodystrophy]]
* Patients with pseudohypoparathyroidism type 1a, type 1c and pseudopseudohypoparathyroidism present by the second decade of life with characteristic physical features of [[Albright's hereditary osteodystrophy]]


* No association between pseudohypoparathyroidism type 1b with clinical features of [[Albright's hereditary osteodystrophy|Albright's osteodystrophy]]
* No association between pseudohypoparathyroidism type 1b with clinical features of [[Albright's hereditary osteodystrophy|Albright's osteodystrophy]]

Latest revision as of 19:58, 20 October 2017

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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

Patients with pseudohypoparathyroidism type1a, type 1c and pseudopseudohypoparathyroidism present by the second decade of life with characteristic physical features of Albright's hereditary osteodystrophy. Pseudohypoparathyroidism type 1B isolated resistance to parathyroid hormone without the associated clinical features of Albright's osteodystrophy. Mild brachydactyly is seen in some cases. Blomstrand's chondrodystrophy presents with short limbs due to characteristic growth impairment. Secondary hyperplasia of the parathyroid glands occurs as a result of associated hypocalcemia.

Physical Examination

The physical exam findings of pseudohypoparathyroidism, acrodysostosis, Blomstrand's chondrodystrophy are as follows:[1][2]

Appearance of the Patient

  • Patients with pseudohypoparathyroidism type 1a, type 1c and pseudopseudohypoparathyroidism present by the second decade of life with characteristic physical features of Albright's hereditary osteodystrophy

Skin

HEENT

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  • Pseudohypoparathyroidism type 1a, type 1c and pseudopseudohypoparathyroidism:

References

  1. Mantovani G, Elli FM, Corbetta S (2017). "Hypothyroidism associated with parathyroid disorders". Best Pract. Res. Clin. Endocrinol. Metab. 31 (2): 161–173. doi:10.1016/j.beem.2017.04.004. PMID 28648505.
  2. Ueyama K, Namba N, Kitaoka T, Yamamoto K, Fujiwara M, Ohata Y, Kubota T, Ozono K (2017). "Endocrinological and phenotype evaluation in a patient with acrodysostosis". Clin Pediatr Endocrinol. 26 (3): 177–182. doi:10.1297/cpe.26.177. PMC 5537214. PMID 28804209.


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