Abstract
Testing urinary excretion of cyclic adenosine 3′, 5′-monophosphate (Uc-AMP) in response to infusion of parathyroid extract (PTE) is an accurate index for establishing the diagnosis of pseudo-hypoparathyroidism (PHP). Uc-AMP after one single dose of i.v. PTE (8 U/kg) was measured in five children of two families in both of which one other member is affected with PHP. All five had normal serum calcium and phosphorus levels at the time of testing and none of them had physical signs of PHP.
PTE caused a marked increase in Uc-AMP in three children similar to that of controls. From two girls, tested at the age of 5 days and 13 months respectively, one did not respond to the hormone; the other showed only minimal increase in Uc-AMP, identical to the amount observed in patients with PHP. Thus the inherited metabolic defect in the adenyl cyclase-c-AMP system, present in PHP, can already be demonstrated in the presymptomatic state. We conclude that these two children suffer from latent Pseudohypoparathyroidism and advocate that they will develop hypocalcemia later in life.
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Kind, H., Parkinson, D., Kooh, S. et al. LATENT PSEUDOHYPOPARATHYROIDISM. Pediatr Res 8, 128 (1974). https://doi.org/10.1203/00006450-197402000-00015
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DOI: https://doi.org/10.1203/00006450-197402000-00015