| Autor: |
A, de Arriba Muñoz, J I, Labarta Aizpún, E Mayayo, Dehesa, M T, Calvo, G, Pérez de Nanclares, A, Ferrández-Longás |
| Rok vydání: |
2010 |
| Předmět: |
|
| Zdroj: |
Anales de pediatria (Barcelona, Spain : 2003). 74(2) |
| ISSN: |
1695-9531 |
| Popis: |
Pseudohypoparathyroidism (PHP) is a heterogeneous group of endocrine diseases characterised by hypocalcaemia, hyperphosphataemia and resistance to PTH. There are different forms of PHP. PHP-Ia is the most frequent form and shows multi-hormonal resistance, GNAS (Gs(α)) mutations and signs of Albright́s hereditary osteodystrophy (AHO). PseudoPHP (PPHP) have isolated AHO without hormonal resistance and it is also caused by GNAS mutations. We present a family that share the same inactivating GNAS mutation (Asn264LysfsX35); the mother being affected with PPHP and the two daughters with PHP-Ia. We discuss the different clinical phenotypes and the dominant mode of inheritance with genetic imprinting where the phenotype of the offspring depends on the sex of the parent affected. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
|
