Pseudohypoparathyroidism

The Pseudohypoparathyroidism ( Martin -Albright syndrome) is a rare disorder that appear in the symptoms of parathyroid hypofunction, although the parathyroid gland secretes enough parathyroid hormone in the blood. The parathyroid hormone effect disappears because phase or permanently disturbances are present in the parathyroid hormone receptor or the intracellular signaling cascade. A family history of the disease suggests a genetic cause. Mostly found in the patients, disturbances of the physique: Mittelhand-/Mittelfußknochenverkürzung, stocky body, brain calcifications. Laboratory tests on a low calcium ( hypocalcemia ) at elevated phosphate ( hyperphosphatemia ) shows up as in the classical parathyroid hypofunction but with normal or elevated parathyroid hormone. The differential diagnosis of Pseudopseudohypoparathyreoidismus shall be delineated.

Causes

  • Type Ia: reduction of the guanine nucleotide binding protein component (Gs ) in the PTH receptor complex
  • Type Ib: defect in the PTH receptor (?)
  • Type Ic: defect in the catalytic unit of the PTH receptor
  • Type II: intact receptor, cAMP normal, lack of intracellular response

Swell

  • Gerd Herold: Internal Medicine 2007
  • Disease in endocrinology
  • Parathyroid
Fuller Albright
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