pseudohypoparathyroïdisme
- Domaine
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- médecine néphrologie et urologie
- Dernière mise à jour
Définition :
Affection souvent familiale, à prédominance féminine, caractérisée par l'association d'une dysmorphie particulière (faciès arrondi, obésité, petite taille, brachymétacarpie), d'une hypocalcémie profonde avec hypophosphorémie et fréquemment de déficience intellectuelle.
Termes privilégiés :
- pseudohypoparathyroïdisme n. m.
- pseudo-hypoparathyroïdisme n. m.
- syndrome d'Albright n. m.
- pseudohypoparathyroïdie n. f.
Traductions
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anglais
Auteur : Office québécois de la langue française,Note :
Characteristically, there is hyperplasia of the parathyroids with excessive secretion of the parathyroid hormone, but slight or absent urinary excretion of 3'5' cyclic AMP (adenosine monophosphate). Clinical presentations, appearing at about the age of 8 years with neuromuscular and mental disturbances, include hypocalcaemia, soft tissue calcifications (commonly subcutaneous), and distinctive skeletal and developmental abnormalities consisting of brachydactyly, a thick-set stocky body with a round face and short neck, normal to increased bone density especially of the skull, thickened calvarium, and defective tooth formation. Some members of affected families show skeletal and developmental anomalies without any evidence of hypoparathyroidism (pseudopseudohypoparathyroidism). The condition may be associated with mental deficiency and certain other hereditary disorders. For most cases, a sex-linked dominant mode of transmission has been postulated.
Termes :
- pseudohypoparathyroidism
- pseudo-hypoparathyroïdism