The diagnosis is based on the presence of the Albright hereditary osteodystrophy pseudotype but without the PTH resistance. Blood tests including calcium, phosphate, and PTH will exclude other forms of Pseudohypoparathyroidism. X-rays may reveal a short fourth metacarpal. Genetic testing can confirm the diagnosis by showing GNAS gene mutation.
Pseudopseudohypoparathyroidism
Hypoparathyroidism
Pseudohypoparathyroidism
Tertiary hyperparathyroidism
Albright's hereditary osteodystrophy
Secondary hyperparathyroidism
Primary hyperparathyroidism
X-linked recessive hypoparathyroidism