Pseudohypoparathyroidism (PHP) is a genetic disorder of end-organ insensitivity to the effect of PTH, which results in hypocalcemia, hyperphosphatemia, and increased PTH levels
Symptoms & Signs
-As the name implies, patients with pseudohypoparathyroidism have signs and symptoms characteristic of hypoparathyroidism
-PHP may be associated by a characteristic phenotype known as Albright Hereditary Osteodystrophy (AHO) which includes short stature, round facies, shortening of the fourth metacarpals (brachydactyly), and osteoma cutis
-Examination of the clenched fist reveals a characteristic depression where the knuckle of the fourth metacarpal should be located.
Diagnosis
-A high concentration of serum PTH, low serum calcium, high phosphate, and
signs and symptoms of hypoparathyroidism
-patients with pseudohypoparathyroidism do not respond to infused PTH
Treatment
Treatment is the same as for hypoparathyroidism