"type I: abnormal cyclic adenosine monophosphate (cAMP) response to PTH stimulation"
"type II: normal cAMP response to PTH stimulation"
"Clinical Presentation"
"Pseudohypoparathyroidism results from mutations at the GNAS locus on chromosome 20q13.3, which affect the G-protein-coupled second messenger pathway with dissociation of the Gsα subunit 6-8. Several peptide hormones, besides PTH, utilise this pathway, and other hormonal resistance (e.g. thyroid stimulating hormone, growth hormone-releasing factor) can occur 6-8."
"type Ia - Albright hereditary osteodystrophy (AHO)"
"CNS & head and neck manifestations"
Expected headings
"Clinical Presentation"
"Musculoskeletal manifestations"
"CNS & head and neck manifestations"
"characteristic phenotypical features including short stature, obesity, round facies, ectopic ossifications (typically subcutaneous), short 4th/5th metacarpals, and/or intellectual disability 6,7"