Dear all
We have a patient with many of the clinical and biochemical features of
pseudohypoparathyroidism.
Does anyone know how the diagnosis can now be made? It used to be that the
cAMP response to PTH was used but this no longer seems to be an option.
Genetic testing of the GNAS1 gene still seems to be in its infancy.
Eric
Dr. Eric S. Kilpatrick
Consultant in Chemical Pathology
Department of Clinical Biochemistry
Hull Royal Infirmary
Anlaby Road
Hull HU3 2JZ
Tel 01482-607708
Fax 01482-607752
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