Pseudohypoparathyroidism type IB

Pseudohypoparathyroidism type IB (PHPIB) is characterized by renal resistance to parathyroid hormone without other endocrine or renal abnormalities.

Clinical Findings

Clinical symptoms of pseudohypoparathyroidism typ 1 B are hypocalcemia, hyperphosphatemia, increased serum PTH, and a decreased response of urinary cAMP to administered PTH.

Pathogenesis

Pseudohypoparathyroidism type 1b is associated with a paternal-specific imprinting pattern on both alleles.

Systematic

Pseudohypoparathyroidism
	Albright hereditary osteodystrophy
	Pseudohypoparathyroidism type IB
		GNAS
		GNAS-AS1
		STX16

References:

1.	Kim HS et al. (2001) The effect of parental imprinting on the INS-IGF2 locus of Korean type I diabetic patients.

2.	Orphanet article Orphanet ID 94089

3.	OMIM.ORG article Omim 603233