Familial SDHC mutation associated with prolactin/gh-secreting pituitary adenoma and paraganglioma


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Inproceedings: an article in a conference proceedings.
Familial SDHC mutation associated with prolactin/gh-secreting pituitary adenoma and paraganglioma
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Endocrine Abstracts
Barigou Mohammed, Buffet Alexandre, Bennet Antoine, Pigny Pascal, Bellec Laurent, Caron Philippe, Vezzosi Delphine
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Introduction: SDH genes mutations are associated with hereditary phaeochromocytoma and paraganglioma syndromes. We describe the case of a patient with SDHC related familial paraganglioma and pituitary adenoma.
Case: A 65-year old man consulted for an incidentally discovered 7 cm abdominal mass on CT-scan, lateral to the right kidney, invading inferior vena cava, associated to a retroperitoneal adenomegaly and a lesion on the body of L2 vertebra with spinal MRI aspect of metastasis. All these lesions showed hypermetabolism on 18F-FDG PET. Continuous blood pressure monitoring, plasma catecholamines and their methoxylated metabolites were normal. Chromogranine A was four times normal (Normal range<100 μg/l). Total right adrenalectomy, lumbo-aortic lymphadenectomy and nephrectomy were performed. Vertebral metastasis was treated by radiofrequency. Histopathology of the primary tumor confirmed the diagnosis of paraganglioma with 2% mitotic index. During follow-up, erectile dysfunction developed. Endocrine evaluation revealed partial hypogonadotropic hypogonadism (testosterone 214 ng/dl Normal: (280–820), LH 2.2 mUI/ml, FSH 2.5 mUI/ml) with hyperprolactinaemia (470 ng/ml, normal value <19 ng/ml) and elevated IGF1 level (214 ng/ml, normal: 41–196 ng/ml). OGTT confirmed GH hypersecretion. MRI showed a T2 hyperintense pituitary adenoma of 15×17 mm with left cavernous sinus extension without optic compression. We retained the diagnosis of PRL/GH-secreting pituitary adenoma and started dopamine agonist plus somatostatin analogue treatment. Genetic analysis revealed an new mutation on SDHC gene on exon 4 c239-242dupGTGC. The same mutation was found in his siblings (son, daughter and the grandson). His son had a non-secreting pituitary microadenoma, without pituitary abnormalities in the daughter. Work-up for paraganglioma was negative in siblings.
Conclusion: This case suggests that SDHC gene mutations could be related to pituitary adenomas occurrence in association with paraganglioma syndromes, but more studies should be conducted to define the pathogenic pathways of this relationship.
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06/08/2021 22:13
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02/11/2021 6:38
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