Pseudohypoparathyroidism

PSEUDOHYPOPARATHYROIDISM
Etiology:
  • There is tissue resistance to the effects of PTH, so PTH concentrations are markedly elevated
  • Type 1 a or Albright's hereditary osteodystrophy (AHO) - GNAS1 mutation is inherited on the maternal chromosome
Clinical and histologic features:
Hypocalcemia
  • Hyperphosphatemia
  • Short stature
  • Short fourth/fifth metacarpals and metatarsals with associated Cataract
  • Rounded face
  • Obesity
  • Subcutaneous calcification
  • The response of urinary cAMP to PTH is decreased/normal and Heterotopic ossification may be characteristically seen.
Exam Question
PSEUDOHYPOPARATHYROIDISM
Etiology:
  • There is tissue resistance to the effects of PTH, so PTH concentrations are markedly elevated
  • Type 1 a or Albright's hereditary osteodystrophy (AHO) - GNAS1 mutation is inherited on the maternal chromosome
Clinical features:
  • Hypocalcemia
  • Hyperphosphatemia
  • Short fourth/fifth metacarpals and metatarsals with associated Cataract

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