Article
[Pseudohypoparathyroidism or hypoparathyroidism? A misleading clinical presentation].
Annales d'endocrinologie - 1 Dec 2001
Derrien C, Odent S, Henry C, De La Villemarque R, Poirier J Y, Maugendre D
Abstract excerpt
We report the case of a 27-year old woman who presented hypocalcemia and hyperphosphoremia during her first pregnancy. Her phenotype was in favor of Albright's hereditary osteodystrophy: short stature, obesity, round face, brachymetacarpy and mental retardation. However, the diagnosis of pseudohypopara thyroidism type Ia was ruled out due to low PTH level (10 pg/ml). The patient's 22q11 microdeletion was...
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