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Pseudohypoparathyroidism: Case Report with Observations on the Difficulty in Confirming the Diagnosis

Ann Intern Med. 1962;56(2):282-288. doi:10.7326/0003-4819-56-2-282
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In 1942, Albright and colleagues (1) introduced the term pseudohypoparathyroidism (PHP) to describe three previously diagnosed cases of idiopathic hypoparathyroidism (IHP) that showed similar abnormalities of serum calcium and phosphate but exhibited refractoriness to parathyroid hormone. The distinguishing clinical findings in this syndrome included short stature, round face, abnormal shortening of the metacarpal and metatarsal bones, and subcutaneous calcifications.

Since 1942, fifty-nine cases of pseudohypoparathyroidism have been reported in the world literature (2-15). It is the purpose of this report to present an unusual example of this disorder and to discuss the difficulties in confirming the diagnosis when the clinical


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