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• W2073170002 endingPage "E719" @default.
• W2073170002 startingPage "E710" @default.
• W2073170002 abstract "Germline mutations in genes coding succinate dehydrogenase (SDH) subunits A, B, C, and D have been identified in familial paragangliomas (PGLs)/pheochromocytomas (PHEOs) and other tumors. We described a GH-secreting pituitary adenoma (PA) caused by SDHD mutation in a patient with familial PGLs. Additional patients with PAs and SDHx defects have since been reported. We studied 168 patients with unselected sporadic PA and with the association of PAs, PGLs, and/or pheochromocytomas, a condition we named the 3P association (3PAs) for SDHx germline mutations. We also studied the pituitary gland and hormonal profile of Sdhb+/− mice and their wild-type littermates at different ages. No SDHx mutations were detected among sporadic PA, whereas three of four familial cases were positive for a mutation (75%). Most of the SDHx-deficient PAs were either prolactinomas or somatotropinomas. Pituitaries of Sdhb+/− mice older than 12 months had an increased number mainly of prolactin-secreting cells and several ultrastructural abnormalities such as intranuclear inclusions, altered chromatin nuclear pattern, and abnormal mitochondria. Igf-1 levels of mutant mice tended to be higher across age groups, whereas Prl and Gh levels varied according to age and sex. The present study confirms the existence of a new association that we termed 3PAs. It is due mostly to germline SDHx defects, although sporadic cases of 3PAs without SDHx defects also exist. Using Sdhb+/− mice, we provide evidence that pituitary hyperplasia in SDHx-deficient cells may be the initial abnormality in the cascade of events leading to PA formation." @default.
• W2073170002 created "2016-06-24" @default.
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• W2073170002 date "2015-05-01" @default.
• W2073170002 modified "2023-10-12" @default.
• W2073170002 title "Pituitary Adenoma With Paraganglioma/Pheochromocytoma (3PAs) and Succinate Dehydrogenase Defects in Humans and Mice" @default.
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• W2073170002 doi "https://doi.org/10.1210/jc.2014-4297" @default.
• W2073170002 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4422891" @default.
• W2073170002 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/25695889" @default.
• W2073170002 hasPublicationYear "2015" @default.
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