The present retrospective descriptive and analytical study included 167 patients divided into three groups. Two groups were comprised of the patients with genetically predetermined pheochromocytoma (type 2 MEN syndrome and von Hippel-Lindau disease respectively), the third croup consisted of the patients presenting with sporadic pheochromocytoma. The median age at which pheochromocytoma was diagnosed was 25 years in group 1, 18 years in group 2, and 47 years in group 3. Adrenalin-type secretion was predominated in group 1 in contrast to the noradrenalin-type and mixed-type secretion in the patients of groups 2 and 3 respectively. The patients of group 1 showed positive correlation between the tumour size and excretion of methylated catecholamines. 82% of these patients exhibited bilateral adrenal lesions and 58% suffered multifocal lesions; no cases of extra-adrenal localization of the tumour were documented. The extra-adrenal localization of pheochromocytomas was observed in 16.4% of the patients in group 2, where 6.6% of the patients had metastases. No metastases of pheochromocytoma were found in the patients of groups 1 and 3. It is concluded that the patients under the age of 40 presenting with bilateral and multicentral pheochromocytoma with the aggravated familial history need the genetic predetermination of the disease to be excluded taking into account syndromal symptoms. Examination for the detection of type 2 MEN is not required in the patients showing isolated normetanephrin excretion. Nor is the search for metastases of pheochromocytoma and its extra-adrenal localization is necessary in the patients presenting with type 2 MEN syndrome and/or exhibiting isolated metanephrin excretion.

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The steadily growing interest in studying of endocrine genetics is driven not only by the search for new pathologies but also by the most pressing need to develop methods for early diagnosis, treatment and management of patients. Though 20% of all the patients with von Hippel-Lindau syndrome do not have a family history of the disease; a genetic basis is a natural characteristic of the disease and determinates a phenotype. Despite the nonaggressive course, in general, a relative unpredictability of the syndrome signs onset and the lack of regular monitoring can increase the risk of surgery complications and cause a disability at a young age. The presented clinical case shows the need for a multidisciplinary approach to management of the patients with von Hippel-Lindau syndrome.

This review of the literature is focused on diagnosis and differential diagnosis of adrenal incidentalomas with special reference to diagnostic steps, major pharmacological tests, radiologic and instrumental studies. Strategies of treatment and management of patients with this pathology are described.

Гипогликемический синдром-это симптомокомплекс, развивающийся вследствие снижения уровня глюкозы крови. В практике эндокринолога основной причиной гипогликемии у больных без сахарного диабета является инсулинпродуцирующая опухоль поджелудочной железы-инсулинома. В ткани инсулиномы происходят различные молекулярно-генетические нарушения, которые приводят к изменению секреции инсулина и его предшественников. Нередко возникает ситуация, в которой не удается установить причину снижения уровня глюкозы крови. В таких случаях развитие гипогликемии может быть результатом различных генетически детерминированных ферментных, аутоиммунных и рецепторных нарушений, которые обусловливают изменение метаболизма глюкозы или синтеза/биоактивности инсулина. При мягком течении таких врожденных заболеваний гипогликемические состояния могут впервые проявляться во взрослом возрасте. В представленном обзоре описаны различные генетические предикторы (мутации), играющие решающую роль в возникновении ферментных, аутоиммунных, рецепторных и пролиферативных нарушений и, как следствие, гипогликемии.