Adrenal gland
Aristidis Diamantopoulos 1 , Panagiotis Mourelatos 1 , Eirini Partsalaki 1 , Sofia Kanellopoulou 1 , Aglaia Papachristou 1 , Vasiliki Antonopoulou 1 , Aikaterini Beka 1 , George Kyriakopoulos 2 , Dimitra Argyro Vassiliadi 1 & Stylianos Tsagarakis 1
1Department of Endocrinology, Diabetes and Metabolism, National Expertise Centre for Rare Diseases, Evangelismos General Hospital of Athens, Athens; [email protected]; 2Department of Pathology, Evangelismos General Hospital of Athens, Athens
Background: An increasing number of mutations are associated with pheochromocytomas. Genetic screening is advocated in all cases and immunohistochemistry as well as phenotype profile recognition may permit a more targeted screening for specific genes.
Case Presentation: A 54-year-old male presented with symptoms compatible with pheochromocytoma and increased levels of plasma normetanephrines, metanephrines and 3-methoxytyramine. On Computed Tomography, the left adrenal was 4.6 cm, with nonenhanced attenuation values~40Hounsfield Units(HU), whereas the right adrenal was 4.7 cm, ~10HU. Delayed contrast medium washout was observed bilaterally. On 123|–metaiodobenzylguanidine there was uptake in the whole left adrenal gland, but in a small part of the right adrenal, indicating the possible coexistence of an adenoma. A 6.5 cm left pheochromocytoma (ki67:7%, PASS-score:8) and a 3 cm right pheochromocytoma were resected. Postoperatively increased plasma normetanephrines persisted. Ga68/DOTATOC-PET showed both medullary and adenoma residuals on the right side. The residual right pheochromocytoma and an adrenocortical adenoma (5 cm, Ki67:1%, Weiss:1/9) were resected. Immunohistochemistry revealed no loss of expression of the proteins Menin, SDHB and SDHA suggesting there were no mutations in MEN1 and SDHx genes. There were no clinical evidence of MEN2, VHL and NF1. Due to hyperprolactinemia (109 ng/ml) and hypogonadotropic hypogonadism (testosterone: 157 ng/dl) pituitary MRI showed enlarged pituitary (1.7 cm). Cabergoline improved hyperprolactinemia and hypogonadism.
Conclusions: Our patient had bilateral pheochromocytomas, unilateral adrenocortical adenoma and pituitary enlargement, an association that indicates a possible multiple endocrine neoplasia syndrome. From the clinical and biochemical data we had no evidence of the most common genetic syndromes. Genetic testing was negative for known pathogenic variants of RET, VHL, TMEM127, NF1, SDHB, MAX, FH, SDHD, SDHA, SDHC, SDHAF2, CDKN1B, EGLN1, GDNF, KIF1B, MEN1, PRKAR1A.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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