Pseudohypoparathyroidism Ib

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Pseudohypoparathyroidism Ib

Pseudohypoparathyroidism Typ Ib (PHP1B, OMIM 603233)

by Susanne Thiele1 and Agnes Linglart2

Clinical description

Pseudohypoparathyroidism type Ib (PHP1B) is a group member of disorders united by PTH resistance in the renal proximal tubule, i.e. pseudohypoparathyroidism (PHP). PTH resistance is manifested by elevated serum PTH levels, hyperphosphatemia, and hypocalcemia. In most cases of PHP1B the clinical phenotype is limited to renal PTH resistance and in some cases TSH resistance has been reported (Levine et al., 1983, Mantovani et al., 2007). In addition, patients with PHP1B may rarely show some features of AHO (de Nanclares 2007, Mariot et al., 2008), including short stature, brachymetacarpia, subcutaneous ossifications, and mental retardation, typically seen in patients with the PHP1a subtype.

Molecular genetic and epigenetic background:

Molecular and epigenetic changes in PHP1B:

Molecular diagnosis in PHP1B patients:

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