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Pseudohypoparathyroidism type IB
Clinical feature:
Definition: Pseudohypoparathyroidism type IB (PHPIB) is characterized by renal resistance to parathyroid hormone without other endocrine or renal abnormalities.
Pathogenesis: Pseudohypoparathyroidism type 1b is associated with a paternal-specific imprinting pattern on both alleles.
Clinical picture: Clinical symptoms of pseudohypoparathyroidism typ 1 B are hypocalcemia, hyperphosphatemia, increased serum PTH, and a decreased response of urinary cAMP to administered PTH.
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