[Pseudohypohyperparathyroidism or Frame's pseudohypoparathyroidism type I].
Case report of a girl with fibrous osteitis lesions associated with clinical and biological symptoms of pseudo-hypoparathyroidism: hypocalcemia, hyperphosphoremia, absence of increase of phosphaturia (urine phosphate level) and especially of cyclic AMP after parathormone injection, high serum parathormone level. Similar cases described in literature are shortly analyzed. The genetic, pathogenic and nosologic problems of such an association are reviewed.
D002118:Calcium / Q000097:blood / Q000652:urine; D002648:Child; D000242:Cyclic AMP / Q000097:blood; D005260:Female; D005357:Fibrous Dysplasia of Bone / Q000150:complications*; D006801:Humans; D010281:Parathyroid Hormone / Q000097:blood; D010758:Phosphorus / Q000097:blood / Q000652:urine; D011547:Pseudohypoparathyroidism / Q000150:complications* / Q000175:diagnosis; D013577:Syndrome; D013746:Tetany / Q000209:etiology
D010281:Parathyroid Hormone; D010758:Phosphorus; D000242:Cyclic AMP; D002118:Calcium
Pseudohypohyperparathyroidie ou pseudohypoparathyroidie type I de Frame