Pseudohypoparathyroidism: A case report

Abstract

Pseudohypoparathyroidism (PHP) is a hereditary disorder characterized by symptoms and signs of hypoparathyroidism, typically in association with distinctive skeletal and developmental defects. The hypoparathyroidism is due to a deficient end organ response to parathyroid hormone (PTH). Unlike the patients with idiopathic hypoparathyroidism, the PHP patients had no response to the infusion of parathyroid extract. We describe a 42-year-old woman who has typical features of Albright's hereditary osteodystrophy (AHO), which include a round face, short neck and stature and brachydactyly. Laboratory investigation showed hypocalcemia, hyperphosphatemia with normal PTH level. Brain CT scan revealed calcification at the basal ganglion and cerebellum and hand X ray showed shortening of the fourth metacarpal bone. The patient was diagnosed to have PHP type 1a,on the basis of somatic features of AHO and biochemical abnormalities.