Pseudohypoparathyroidism

Pseudohypoparathyroidism 

Updated: 01/25/2021

© Jun Wang, MD, PhD

General features
  • Heterogeneous group of disorders 
  • More common in female
  • Onset usually starts at childhood
  • Insensitivity to the biologic activity of PTH
  • Type 1: Commonly defects in GNAS1, heterozygous
  • Type 2: No skeletal or developmental defects, normal urinary cAMP response
Clinical presentations
  • Associated with hypocalcemia
  • Hypocalcemia, hyperphosphatemia, increased PTH
Type 1
  • 1a: Albright hereditary osteodystrophy, autosomal dominant, , characteristic appearance (short stature, obesity, round facies, shortened metacarpals and metatarsals), deficiency of Gs alpha protein, defected functions of TSH, antidiuretic hormone, gonadotropins and growth hormone
  • Pseudopseudohypoparathyroidism: Insufficient Gs alpha protein function, appearance of Albright hereditary osteodystrophy without PTH resistance
  • 1b: Resistance to PTH only in the kidneys, genetic basis unknown
  • 1c: Clinical and laboratory findings similar 1a, without detectable Gsa defect
Management
  • Maintain normal calcium levels


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