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

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:
  • Subcutaneous ossifications
  • Obesity

HEENT

• Acrodysostosis:
  • Small, flat, upturned nose

• Blomstrand's chondrodystrophy:
  • Protruding eyes showing cataracts
  • Facial anomalies like
  • 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:
  • Hypoplastic genitalia
  • Cryptorchidism

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 brachydacty

Neuromuscular

• Pseudohypoparathyroidism type1a , type 1c and Pseudopseudohypoparathyroidism:
  • Mild to moderate intellectual disability

References

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