Denoument and Discussion
Manifestations are shortness of stature, obesity, rounded faces, shortening of one or more metacarpals and metatarsals, and mental retardation. Convulsions may occur, and calcifications are frequently present within the brain and in subcutaneous tissues. Not all end organs (kidney, bone, and intestine) are equally affected, and, therefore, there are several clinical forms of pseudohypoparathyroidism.Biochemical findings of diagnostic importance are hypocalcemia and hyperphosphatemia that, unlike idiopathic hypoparathyroidism, remain uninfluenced by exogenous parathormone injection (Ellsworth-Howard test). The urinary excretion of cyclic adenosine monophosphate (AMP) is also not increased by parathormone injections. Serum parathormone levels are increased because of lack of the feedback regulatory influence by cyclic AMP.It appears that pseudohypoparathyroidism and psuedo-psuedohypoparathyroidism are closely related. The latter is clinically similar to pseudohypoparathyroidism, but biochemical findings are different. Occurrences of normocalcemic and hypocalcemic patients within one family help support the hypothesis that both entities are similar.
Gellis SS, Feingold M, Farriaux JP, Fontaine G. Picture of the Month. Am J Dis Child. 1977;131(7):807-808. doi:10.1001/archpedi.1977.02120200087020