This disease is characterized by the onset of primary immunodeficiency, which expresses itself as autoimmune multisystem failure, often clinically manifests during the first year of life; there are only about 150 cases in the world described by now. IPEX syndrome is caused by FOXP3 gene defect, which is a transcription factor that affects the activity of regulatory T-cells responsible for the maintenance of aytotolerance. There are around 70 pathogenic mutations in this gene described so far. Most patients with IPEX-syndrome have a clinical manifestations of the disease in the early neonatal period or during the first 3-4 months of life. For this disease the following clinical triad of manifestations is typical: Autoimmune enteropathy (100%), diabetes mellitus (70%), skin lesions (65%), as in the syndrome structure includes severe developmental delay (50%), thyroid disease (30%), recurrent infections (20%), rarer autoimmune cytopenia (Coombs-positive hemolytic anemia), pneumonia, nephritis, hepatitis, artrit, myositis, alopecia. However, some cases of later manifestations were described (in patients of more than 1 year of age) when patients did not show all clinical and laboratory symptoms typical for severe forms of the disease. Due to the severity of the disease and the high mortality in this group of patients, it is very important to diagnose it early and start therapy timely. The article describes a clinical case of permanent neonatal diabetes mellitus in the structure of IPEX syndrome.

Pituitary gigantism is a disease caused by an excess of growth hormone and characterized by tallness with a proportional increase in all parts of the body. Almost always in patients with pituitary gigantism found pituitary adenoma, producing growth hormone (somatotropin). In rare cases, there is excess production of somatoliberin by the hypothalamus or tumors outside the brain. Somatotropinoma can be sporadic or caused by a disease with genetic defects: multiple endocrine neoplasia type 1, McCuneAlbright syndrome, Carney complex, X-LAG syndrome, AIP-mutation. All associated with genetic defects somatotropinoma more invasive and less amenable to drug therapy than sporadic. Clinical recommendations (protocols) for the treatment of pituitary gigantism in children currently does not exist. The issue of preliminary medical treatment to improve the outcome of neurosurgical interventions has not been resolved, and further methodologically based studies are needed to clarify this point. The article presents a clinical case of pituitarygigantism caused by pituitary adenoma, which produces growth hormone in a 12-year-old boy. The diagnosis was established on the basis of clinical and anamnestic, laboratory data and magnetic resonance imaging. Clinical and laboratory manifestations of hypopituitarism and diabetes insipidus, visual field disorders, neurological symptoms, as well as signs of genetic diseases in the patient were not noted. Treatment with bromocriptin gave a partial positive effect: the size of the formation in the pituitary gland decreased, but the target hormonal parameters were not achieved. A trial administration of octreotide subcutaneously was carried out, as a result of which the level of growth hormone decreased to the target values, no side effects of the drug were noted, which led to the choice of a conservative method as the first line of therapy. Thedecision to treat with bromocryptine in combination with octreotide extended action. The dynamics of tumor sizeonthebackgroundofconservative therapy will answer the question of the need for subsequent neurosurgical treatment.