Pseudohypoparathyroidism type I-b with neurological involvement is associated with a homozygous PTH1R mutation.

ABSTRACT: Pseudohypoparathyroidism type 1b (PHP1b) is characterized by hypocalcemia, hyperphosphatemia, increased levels of circulating parathyroid hormone (PTH), and no skeletal or developmental abnormalities. The goal of this study was to perform a full characterization of a familial case of PHP1b with neurological involvement and to identify the genetic cause of disease. The initial laboratory profile of the proband showed severe hypocalcemia, hyperphosphatemia and normal levels of PTH, which was considered to be compatible with primary hypoparathyroidism. With disease progression the patient developed cognitive disturbance, PTH levels were found to be slightly elevated and a picture of PTH resistance syndrome seemed more probable. The diagnosis of PHP1b was established after the study of family

SUBMITTER: Guerreiro R 

PROVIDER: S-EPMC5026059 | biostudies-literature | 2016 Sep

REPOSITORIES: biostudies-literature