Klinicheskiy sluchay psevdogipoparatireoza u muzhchiny 33 let


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Resumo

Pseudohypoparathyreosis (PHP) and Albright's hereditary osteodystrophy (AHO) are very rare and heterogeneous diseases with a proven genetic component. The reasons for the development of PHP are the genetic defect of G-protein of parathyroid hormone receptor, or a defect in the intracellular signaling system of targeting cells, which lead to resistance to parathyroid hormone. The most characteristic clinical features of the AHO are brachydactyly in conjunction with heterotopic ossification; in addition, the symptoms of AHO include moon face, low height, central obesity, and varying degrees of mental retardation. Due to variety of clinical manifestations, PHP can be undetected for a long time. This clinical case is dedicated to the features of diagnosis and treatment of PHP.

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Bibliografia

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