Pseudohypoparathyroidism type IB
Pseudohypoparathyroidism type IB (PHPIB) is characterized by renal resistance to parathyroid hormone without other endocrine or renal abnormalities.
Clinical symptoms of pseudohypoparathyroidism typ 1 B are hypocalcemia, hyperphosphatemia, increased serum PTH, and a decreased response of urinary cAMP to administered PTH.
Pseudohypoparathyroidism type 1b is associated with a paternal-specific imprinting pattern on both alleles.
|Albright hereditary osteodystrophy|
|Pseudohypoparathyroidism type IB|
Kim HS et al. (2001) The effect of parental imprinting on the INS-IGF2 locus of Korean type I diabetic patients.[^]
Orphanet articleOrphanet ID 94089 [^]
OMIM.ORG articleOmim 603233 [^]