Pseudohypoparathyroidism

Albright’s hereditary osteodystrophy is a disorder is characterized by a lack of responsiveness to parathyroid hormone, resulting in low serum calcium, high serum phosphate, and appropriately high serum parathyroid hormone.

Individuals with Albright’s hereditary osteodystrophy have short stature, characteristically shortened fourth and fifth metacarpals, rounded facies, and often mild mental retardation.

Albright’s hereditary osteodystrophy is commonly known as Pseudohypoparathyroidism because the kidney responds as if parathyroid hormone were absent. In fact, blood levels of parathyroid hormone are elevated in Pseudohypoparathyroidism due to the continued Hyperphosphatemia & Hypocalcemia. (adapted from wikipedia)


Image from NEJM Image challenge (link)

“The absence of the fourth knuckle on each hand is characteristic of Albright’s hereditary osteodystrophy. First described in 1952 by Fuller Albright, the disorder is caused by a paternally transmitted mutation in the gene encoding adenylate cyclase-stimulating G alpha protein, which results in the characteristic osteodystrophy with a normal renal response to parathyroid hormone and preserved calcium homeostasis (called pseudopseudohypoparathyroidism).” From NEJM

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