ea0065cc9 | FEATURED CLINICAL CASE POSTERS | SFEBES2019
, Dixit Abhijit
, Johnson Katie
, Chokkalingam Kamal
Pseudohypoparathyroidism type 1b (PHPT1b) is a rare disorder due to resistance to parathyroid hormone (PTH) and subsequent hypocalcaemia, hyperphosphataemia and normal or raised PTH levels. Sufferers usually present in childhood with seizures or tetany due to hypocalcaemia. Typically, PHPT1b is associated with defects on the long-arm of chromosome 20 in the form of uniparental (paternal) disomy of 20q or genetic mutations or sporadic epigenetic changes in GNAS gene. G...