NCIt related terms : Pseudohypoparathyroidism, Type 2;
NCIt definition : Parathyroid hormone (PTH) resistance caused by vitamin D deficiency and characterized
by clinically increased PTH concentrations with relative hyperphosphatemia. The diagnosis
can be confirmed by finding of a normal cyclic adenosine monophosphate (cAMP) response
to PTH infusion, but deficient phosphaturic response, indicating a defect distal to
cAMP generation in renal cells.;
Alternative definition : NICHD: Parathyroid hormone (PTH) resistance caused by vitamin D deficiency, and characterized
by clinically increased PTH concentrations with relative hyperphosphatemia. The diagnosis
can be confirmed by a finding of a normal cyclic adenosine monophosphate (cAMP) response
to PTH infusion, but deficient phosphaturic response, indicating a defect distal to
cAMP generation in renal cells.;