This study was designed to ascertain the role of anti-interferon (IFN)-ω and -α2 antibodies (AB) in diagnostics of type 1 autoimmune polyglandular syndrome (APS-1) and evaluate specificity and sensitivity of the HEK-Blue cells method used to detect these antibodies. The study included 34 patients presenting with APS-1 and 21 patients with focal alopecia. All 100% of the patients with APS-1 ehxhibited high titers of anti IFN-ω antibodies; 97% of them had anti IFN-a2 antibodies. These antibodies were not found in the patients with focal alopecia. It is concluded that the measurement of anti IFN-α and α2 antibodies with the use of HEK-Blue cells is a highly specific and sensitive method for diagnostics of APS-1.

We have evaluated the prevalence of the ectopic testicular adrenal rest tissue (TART) among 71 patients at the age varying from 1 to 19 years and compared the visualization techniques (ultrasound examination, MRI) employed to diagnose TART. This condition was revealed in 14.1% of the patients (10/71). One of them presented with the simple virile (SV) form of the disease and 9 with the salt-wasting one. Most cases of TART (9 of the ten) were diagnosed with the help of the ultrasound technique whereas MRI allowed to determine the size of the neoplasms. The study has demonstrated the relationship between TART and 17-OH and PRA (plasma rennin activity) levels at the time of their measurement. Moreover, the relationship between the number of measurements and the PRA level during the last year has been documented. It is concluded that TART most frequently develops in the children given the poorly controlled treatment; the insufficiency of both gluco- and mineralocorticoids is a predetermining but not the sole risk factor of the condition being considered.

The present study of HNF1А gene involved 121 children suspected to have the nonimmune-mediated form of diabetes mellitus. Diagnosis of MODY3 was verified in 18 (19.4%) probands. Disturbances of carbohydrate metabolism in one of the parents were documented in 94.5% of the cases. Metabolic disorders were revealed in the probands at the mean age of 11.65 years (9.8; 14.6), the clinical manifestations of diabetes mellitus (DM) were apparent in 16.7% of the children, the fasting blood glucose level was 7.5 mmol/l, HbA1c 6.6% (6.5; 7.7), 66.7% of the children had a history of glucosuria and 33.3% suffered obesity. The normal fasting blood glucose and HbA1c levels were found in 22.2% of the children. In 100% of the cases, results of OGTT suggested diabetes despite insulin secretion. Low titers of anti-GAD and anti-IA2 antibodies were detected in 20.0 and 22.2% of the children respectively. The most common mutation was p.P291fs.

The present study included 71 patients with type 2 diabetes mellitus (41 boys and 30 girls) at the age from 9 to 18 (mean 15.2 (13.6; 16.5)) years, duration of the disease 5.0 (2.5; 9) years, and the HbA1c level of 9.1% (7.0; 10.2). All the patients underwent continuous ECG monitoring with the assessment of the cardiac rhythm variability (CRV) characteristics and the QT interval duration over 24 hours. These studies were supplemented by cardiovascular tests and the PWC170 test with the evaluation of CRV and the heart rate (HR) during testing and the rehabilitation period. Autonomous dysfunction was documented in 22 (30.9%) patients. It was shown that the children and adolescents presenting with the cardiovascular form of autonomous neuropathy (KAH+) had lower CRV values during physical exercises than the patients without KAH+ , and their CRV and HR characteristics failed to be fully normalized after the cessation of loading. This fact may be responsible for the high cardiovascular morbidity and mortality rate among the patients with DM1 in the mature age.

The objective of the present study was to elucidate the peculiar features of hormonal and metabolic imbalance in the young and adult men depending on the time of obesity manifestation, that is in adolescence or in the mature age. It was shown that over 40% of the young and adult men with obesity developed the well-apparent testosterone deficiency regardless of the time of obesity manifestation (Me 11.2-11.7 nmol/l). The overwhelming majority of the patients showing testosterone deficiency (60-80%) made up subgroups with metabolic syndrome (MS). The young and adult men in whom obesity began to develop in adolescence exhibited a more pronounced increase of fasting blood insulin level and HOMA-IR index than the men who developed obesity in the adulthood. Only in both young and adult men who began to develop obesity in adolescence, the blood aldosterone and cortisol levels were higher than in the age-matched normal subjects. These men, unlike those with obesity starting to develop in the adulthood, had the blood aldosterone and cortisol levels shifted to the upper limit of the reference values

Hypophosphatasia is a rare hereditary rickets-like disease resulting from the impaired activity of tissue-specific alkaline phosphatase encoded by the ALPL gene. A few forms of this pathology are distinguished depending on the severity of its clinical picture and the age at which its symptoms begin to manifest themselves. The main clinical signs of the disease are skeletal deformations, muscular hypotonia, and respiratory insufficiency in the early childhood as well as the retardation of the physical and motor development and early loss of the teeth In the mature age, such patients suffer from stress fractures, muscle pain, calcification of the ligaments and joints. The biochemical markers of hypophosphatasia are the low blood alkaline phosphatase level and the high urinary phosphoethanolamine level. Also, the severe forms of the disease are associated with hypercalcemia, hyperphosphatemia, and the low parathormone level. The authors describe the patients presenting with Hypophosphatasia of different severity in whom the molecular-genetic verification of the diagnosis was undertaken for the first time in this country.

Type 1 autoimmune polyglandular syndrome (type 1APS) is a rare genetic disease resulting from mutations in the AIRE gene. Diagnostics of this pathology is based not only on the results of genetic studies but also on the measurement of the level of antibodies against type 1 interferons, such as interferon-ω and interferon-α2. The present review of the literature is focused on type 1 interferons, anti-interferon antibodies, and pathophysiological characteristics of the processes induced by these antibodies.

Pseudo-hypothyroidism (PHP) is a rare genetic disorder that manifests itself in the form of disturbances of phosphorus and calcium metabolism due to parathyroid hormone (PTH) resistance. The clinical variant of PHP depends not only on PTH resistance: there is a phenotype attributable to multi-hormonal resistance. PTH resistance is associated with the disturbance of activity of the alpha-subunit in G-protein due to a defect in the GNAS gene and epigenetic variations. The mechanism underlying the development of this rare (orphan) condition is highly complicated and remains to be elucidated. The present review reflects the modern views of etiology, pathogenesis, and clinical variability of pseudohypothyroidism.

Incidentalomas are the most common neoplasms in the hypothalamic-pituitary region. Diagnostics, treatment strategy, and indications for the surgical intervention on the patients with these tumours pose a serious challenge for a wide circle of specialists. The diagnostic problems arise from the absence of the specific clinical signs and symptoms as well as the reliable biochemical markers of the disease. The modern laboratory methods do not allow to reveal the pathological hormonal secretion during the diagnostic study, predisposition of the neoplasm to the invasive and infiltrative growth, and signs of its «aggressiveness». This considerably complicates the choice of the optimal surgical strategy and the evaluation of the long-term results of the treatment. Bearing in mind the importance of the problem under consideration, the working group was set up for the development of federal recommendations on the treatment of pituitary incidentalomas based on the principles of evidence-based medicine. The experience accumulated by the domestic and international experts was summarized in the federal clinical guidelines on pituitary incidentalomas containing the available information about these neoplasms.