Despite its name, pseudo-pseudohypoparathyroidism is not an endocrine disorder but a syndrome of multiple congenital defects. It should be differentiated from hypoparathyroidism and from pseudohypoparathyroidism (Table 1).1
True hypoparathyroidism is associated with low-to-normal serum calcium, high-tonormal serum phosphorus, decreased urinary calcium excretion, and in advanced cases, tetany (Table 1).1 It is due to a lack of parathyroid hormone, and as demonstrated by Ellsworth and Howard in 1932, when parathyroid extract is administered, these patients exhibit a greater-thannormal phosphate diuresis.2,3
In 1942, Albright, Burnet, and Smith reported three patients with the characteristic electrolyte changes of hypoparathyroidism who failed to respond to the administration of parathyroid extract.4 They labeled this syndrome "pseudohypoparathyroidism."4 Parathyroid gland biopsy specimens revealed a normal to hyperplastic gland structure.1 This phenomenon may be due to a failure of endorgan response in the presence of an adequate supply of parathyroid hormone.1 Associated with their endocrine defects, these patients usually
BARR SE, TAYLOR EF, RABKIN B. Pseudo-Pseudohypoparathyroidism: Report of a Case and Review of the Literature. AMA Arch Intern Med. 1960;105(3):492–495. doi:10.1001/archinte.1960.00270150146015
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