Pseudohypoparathyroidism physical examination
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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 presents 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 type1a , type 1c and pseudopseudohypoparathyroidism presents by the second decade of life with characteristic physical features of Albright's hereditary osteodystrophy
- Pseudohypoparathyroidism type 1b is not associated with clinical features of Albright's osteodystrophy. Mild brachydactyly is seen in some cases
Skin
- Pseudohypoparathyroidism type1a , type 1c and Pseudopseudohypoparathyroidism:
HEENT
- Acrodysostosis:
- Small, flat, upturned nose
- Blomstrand's chondrodystrophy:
- Protruding eyes showing cataracts
- Macroglossia
- Micrognathia
- Depressed nasal bridge
- Pseudohypoparathyroidism type1a , type 1c and Pseudopseudohypoparathyroidism:
- Round face
- Frontal bossing
- Dental hypoplasia
Lungs
- Blomstrand's chondrodystrophy:
- Narrow thorax
Genitourinary
- Acrodysostosis:
Extremities
- Acrodysostosis:
- Short hands
- Blomstrand's chondrodystrophy:
- Short limbs
- Dwarfism
- advanced bone maturation in the fetus resulting in neonatal death
- Pseudohypoparathyroidism type1a , type 1c and Pseudopseudohypoparathyroidism:
- Shortening of third, fourth, and fifth metacarpals and metatarsals
- Pseudohypoparathyroidism Type 1B
- Mild brachydactyly
Neuromuscular
- Pseudohypoparathyroidism type1a , type 1c and Pseudopseudohypoparathyroidism:
- Mild to moderate intellectual disability
References
- ↑ 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.
- ↑ 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.