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 Ia (Albright hereditary osteodystrophy (AHO)): has characteristic phenotypical features
  • type Ib: lacks phenotypical features
• 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

• short stature and obesity 
• brachydactyly
  • short metacarpals (inclusive of short 4/5 metacarpals)
  • short metatarsals
• soft tissue calcification
• exostoses: short metaphyseal or more central and perpendicular to long axis of a bone
• broad bones with coned epiphyses

CNS / head and neck manifestations

• basal ganglia calcification
• sclerochoroidal calcification
• deep white matter calcification

Siehe auch:

• Basalganglienverkalkungen
• Weichteilverkalkungen
• Brachydaktylie
• Pseudohyperparathyreoidismus
• metacarpals
• short 4

und weiter:

• zerebrale Verkalkungen
• intrakranielle Verkalkungen
• Bulbus-oculi-Verkalkungen
• Brain stone
• dichte metaphysäre Bänder
• Brachymetatarsie
• premature closure of a growth plate
• beschleunigte Skelettreifung
• differential diagnosis of osteoporosis
• short metacarpals (mnemonic)
• Verkürzung Metakarpale vier oder fünf
• zapfenförmige Epiphyse