pseudohypoparathyroidism

Pseudohypoparathyroidism (PHP) is a condition where there is end-organ resistance to parathyroid hormone (PTH).

Epidemiology

Pseudohypoparathyroidism has an estimated prevalence of 1.1 per 100,000 people .

Clinical Presentation

  • Hypocalcemia and tetany
  • Short stature
  • Developmental delay

Pathology

Subtypes

There are several recognized subtypes which include:

  • type I: abnormal cAMP response to PTH stimulation
  • type II: normal cAMP response to PTH stimulation
Markers
  • parathyroid hormone level: high
  • serum phosphate level: high
  • serum calcium level: low  

Radiographic features

Musculoskeletal manifestations
CNS / head and neck manifestations