Pseudohypoparatyreóza
| Title in English | Pseudohypoparathyroidism |
|---|---|
| Authors | |
| Year of publication | 2016 |
| Type | Conference abstract |
| MU Faculty or unit | |
| Citation | |
| Description | Pseudohypoparathyroidism (PHP) is a heterogeneous group of disorders characterized by target tissue resistance to the parathyroid hormone accompanied by the biochemical finding of hypoparathyroidism (normo/hypo-calcemia, hyperphosphatemia). Based on the different pathogenesis and phenotype PHP is divided into four clinical units: la, Ib, Ic and II. The present report describes the case of a six-year-old boy who was admitted to hospital because of newly discovered hypocalcemia and hyperphosphatemia. Due to results of the laboratory findings we pronounced the suspicion of PHP. The diagnosis was then confirmed at the molecular-genetic level. |