Endocrine Abstracts

Neuroendocrine tumours, especially pheochromocytomas, paragangliomas and pituitary adenomas, are more common in younger patients in 3rd–5th decade of life. PitNETs are the most common intracranial tumours, while PHEO and PGL are rare. The hormonal activity, signs and symptoms of NET are variable. PGL, PHEO and PitNET in one patient remains an exceptional association. 72 cases of concomitant pituitary adenoma and PGL have been reported to date. The first record of a patient with acromegaly and PHEO dates back to 1952. We present a case of a 39-year-old man with non-specific symptoms including high blood pressure, headache, sweating and specific apparent acromegalic features on the face and hands. Screening CT scan found vascularized expansion (up to 6.5 cm) with cystic necrosis in the area of both adrenal glands. Initial measurement showed high plasma levels of catecholamines and their metabolites, prolactin, growth hormone and IGF-I. Then MRI examination of the brain was indicated and found intrasellar expansion (2 cm x 2.3 cm x 2 cm) prominent into the sphenoid cavity. Genetic analysis was performed due to endocrine syndromic comorbidities in a young patient which revealed a germline mutation in the gene MAX. Treatment included bilateral adrenalectomy of PHEO and neurosurgical intervention. Because acromegaly was not adequately controlled after surgery, somatostatin analogue was introduced. In up to 25 % of cases, especially in younger people, pheochromocytomas may be caused by an inherited mutation of various genes (SDHB, SDHD, SDHC, VHL, MAX, RET). Mutation frequencies in the MAX gene are uncommon. They lead to incorrect regulation of the MYC-MAX-MXD1 path, which is coupled to the mTOR path. So far, the most effective treatment is the surgical removal of the neuroendocrine tumours. Performing genetic analysis is not a routine, but for related individuals, it’s a possibility to detect a malignant form of the disease earlier.