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Article

Hyperparathyroidism complicating CYP 24A1 mutations.

Annales d'endocrinologie - 1 Oct 2016

Loyer Camille, Leroy Clara, Molin Arnaud, Odou Marie-Françoise, Huglo Damien, Lion Georges, Ernst Olivier, Hoffmann Maxime, Porchet Nicole, Carnaille Bruno, Pattou François, Kottler Marie-Laure, Vantyghem Marie-Christine

Abstract excerpt

CYP24A1 gene mutations induce infantile hypercalcemia, with high 1,25(OH)2D contrasting with low PTH levels. The adult phenotype is not well known. Two unrelated adult patients were referred for nephrolithiasis, hypertension, hypercalcemia, hypercalciuria, normal 25-OHD levels, and inappropriate PTH levels (22 to 92pg/mL;N: 15-68) suggesting primary hyperparathyroidism, leading to surgery. Hypercalciuria improved...

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PMID: 27378451
DOI: 10.1016/j.ando.2016.03.002

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PTH

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