Article
Germinal defects of SDHx genes in patients with isolated pituitary adenoma.
European journal of endocrinology - 1 Oct 2020
Mougel Grégory, Lagarde Arnaud, Albarel Frédérique, Essamet Wassim, Luigi Perrine, Mouly Céline, Vialon Magaly, Cuny Thomas, Castinetti Frédéric, Saveanu Alexandru, Brue Thierry, Barlier Anne, Romanet Pauline
Abstract excerpt
BACKGROUND: The '3PAs' syndrome, associating pituitary adenoma (PA) and pheochromocytoma/paraganglioma (PPGL), is sometimes associated with mutations in PPGL-predisposing genes, such as SDHx or MAX. In '3PAs' syndrome, PAs can occur before PPGL, suggesting a new gateway into SDHx/MAX-related diseases. OBJECTIVE: To determine the SDHx/MAX mutation prevalence in patients with isolated PAs and characterize PAs of...
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