Pseudohypoparathyroidism

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

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