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 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:

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

• No association between pseudohypoparathyroidism type 1b with clinical features of Albright's osteodystrophy
• Mild brachydactyly is seen in some cases

Skin

• Pseudohypoparathyroidism type 1a, type 1c and pseudopseudohypoparathyroidism:
  • Subcutaneous ossifications
  • Obesity

HEENT

• Acrodysostosis:
  • Small, flat, upturned nose

• Blomstrand's chondrodystrophy:
  • Protruding eyes showing cataracts
  • Macroglossia
  • Micrognathia
  • Depressed nasal bridge
• Pseudohypoparathyroidism type 1a, type 1c and pseudopseudohypoparathyroidism:
  • Round face
  • Frontal bossing
  • Dental hypoplasia

Lungs

• Blomstrand's chondrodystrophy:
  • Narrow thorax

Genitourinary

• Acrodysostosis:
  • Hypoplastic genitalia
  • Cryptorchidism

Extremities

• Acrodysostosis:
  • Short hands

• Blomstrand's chondrodystrophy:
  • Short limbs
  • Dwarfism
  • Advanced bone maturation in the fetus resulting in neonatal death
• Pseudohypoparathyroidism type 1a, type 1c and pseudopseudohypoparathyroidism:
  • Shortening of third, fourth, and fifth metacarpals and metatarsals
• Pseudohypoparathyroidism type 1B
  • Mild brachydactyly

Neuromuscular

• Pseudohypoparathyroidism type 1a, type 1c and pseudopseudohypoparathyroidism:
  • Mild to moderate intellectual disability

References

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