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Pseudohypoparathyroidism is a condition caused by resistance to the parathyroid hormone. Patients have a low serum calcium and high phosphate, but the parathyroid hormone level (PTH) is appropriately high. Its pathogenesis has been linked to dysfunctional G Proteins.
The term pseudopseudohypoparathyroidism is used to describe a condition where the individual has the phenotypic appearance of pseudohypoparathyroidism type 1a, but is biochemically normal.
Patients may present with features of hypocalcaemia including; carpo-pedal spasm, tetany, muscle cramps and seizures. Type 1a Pseudohypoparathyroidism is clinically manifest by blunting of fourth and fifth metacarpals (The common mnemonic “knuckle knuckle dimple dimple” refers to the blunting of the fourth and fifth metacarpal bones), short stature, obesity, developmental delay.
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