The present study included patients with confirmed diagnosis of ACTH-dependent hypercorticism admitted to the Department of Neuroendocrinology and Osteopathies, Endocrinological Research Centre, between 2008 and 2012. Selective blood sampling from the inferior petrosal sinuses was performed with the stimulation by decompressin administered intravenously at a dose of 8 mcg. The normalized ACTH/prolactin ratio was calculated by dividing the maximum ACTH gradient following decompressin stimulation by the ipsilateral prolactin gradient. The cut off values were calculated from the operating characteristic curves as follows: 1.5 for the prolactin gradient (sensitivity 92.5%, specificity 100%) and 1.18 for the normalized ACTH/prolactin ratio (sensitivity 85.9%; 95% CI 76.8-93.4, specificity 100%; 95% CI 60.9-100). In the study cohort (n=70), the normalized ACTH/prolactin ratio proved to be a more specific but less sensitive parameter than the routine analysis of the ACTH gradient (sensitivity 98.4%, specificity 83.3%). Areas under the operating characteristic curves were on the whole identical. However, comparison of the diagnostic value of selective blood sampling from the inferior petrosal sinuses in combination of the determination of the prolactin gradient and normalized ACTH/prolactin ratio with the results obtained in the patients in whom the catheter position was not controlled (n=47) revealed the advantages of the former approach in terms of both the number of unverified causes of hypercorticism (1 versus 6) and the area under the operating characteristic curves 0.964 (95% CI 0.897-1.032) among 70 patients and 0.910 (95% CI 0.821-0.998) among the first 47 patients (included in the analysis confined to the confirmed cases). It is concluded that the determination of the prolactin gradient and calculation of the normalized ACTH/prolactin ratio allow to increase the diagnostic value of selective blood sampling from the inferior petrosal sinuses under decompressin stimulation. This inference is especially true of doubtful cases.

This study included the patients presenting with neuroendocrine tumours (NET) and the clinical picture of hypercoticism caused by excessive ACTH secretion from the tumour. The overwhelming majority of the patients (85%) suffered Cushing's disease (CD) associated with a pituitary tumour. The remaining 15% of the patients presented with ACTH-ectopic syndrome (ACTH-ES). The clinical picture of CD and ACTH-ES was very similar. The latter condition was associated with the higher plasma ACTH and cortisol levels as well as the free cortisol content in 24 hour urine and saliva samples collected in the evening compared with CD even though the differences were insignificant due to data scattering. Decompressin administration and catheterization of inferior petrosal sinuses caused a much greater enhancement of the ACTH level in the patients with CS in comparison with those suffering ASTH-ES.

The non-classical form of 21-hydroxylase deficiency (NC21OH) is one of the most common monogenic diseases inherited in the autosomal-recessive pattern. The incidence of this condition in the Russian population, unlike that of its classical variant, remains to be elucidated. Aim. The objective of the present study was to estimate the true incidence of NC21OH based on the prevalence of the two most frequent mutations associated with this disease. A total of 998 randomly selected blood spots were obtained in the course of neonatal screening of the children born within one calendar year at the territory of the Moscow region. The incidence of the disease was calculated with the use of Hardi-Weinberg equation. The minimal prevalence rate of NC21OH in the population of the Moscow region was estimated to be 1:2206. The level of 17-hydroxyprogesterone (17-OHP) calculated based on the results of the screening studies can not be used to identify the carriers of the pathology of interest whereas neonatal screening allows to diagnose no more than 90% of the cases of NC21OH.

The authors report a rare case of ACTH-ectopic syndrome with the cyclic clinical course and localization of the primary neoplasm in the cecum of the 24-year old woman followed up for 6 years.

A 16-year old boy, P.E., is described in whom the diagnosis of congenital lamellar ichthyosis was established at birth based on the clinical picture and confirmed by a molecular genetic study. Diabetes mellitus was first suspected at the age of 10 years based on the elevated fasting blood glucose (7.1 mmol/l) and HbA1c (7.4%) levels. The patient's medical history revealed that his maternal grandmother suffered diabetes mellitus and his mother had gestational diabetes during the second pregnancy. The patient presented with impaired carbohydrate tolerance in the absence of insulin resistance. The molecular genetic study of the GCK gene revealed a Gly80Ser mutation in the third exon sequence. We failed to find a report of the combination of congenital lamellar ichthyosis and type 2 MODY diabetes mellitus in the available literature.

Prader-Willi syndrome (PWS) is a genetic disease characterized by such symptoms as severe hyperphagia leading to marked obesity, growth retardation, peculiar outward appearance, cognitive disorders, behavioural and psyschiatric problems. At present, recombinant growth hormone (rGH) is the sole effective agent for the treatment of PWS; it significantly improves the quality of life of the patients with this pathology. Numerous beneficial effects and possible risks of rGH therapy of PWS are discussed.

The present study deals with the currently employed method for continuous monitoring blood glucose level, indications for its use, information and therapeutic potential, and major technical aspects. The authors emphasizes that routine application of the continuous monitoring technique fails to improve the blood glucose level. Its potential benefits for the patients presenting with diabetes mellitus are discussed with reference to certain clinical situations. Special attention is given to the methods of mathematical analysis of the results obtained by means of continuous monitoring blood glucose level.

he literature data on the effectiveness and safety of the essentially new scheme of hypoglycemic therapy of type 2 diabetes mellitus are presented, The large-scale 52 week study has demonstrated that the addition of insulin detemir to the preceding treatment with liraglutide makes it possible to reach and maintain glycated hemoglobin percentage at the desired level of 7% in 43% of the patients. The risk of development of hypoglycemia was estimated at 0.286 episodes per patient per year in the absence of body weight increment. The combination of these two medications was found to produce pronounced hypoglycemic effect without affecting the pharmacokinetic properties of each other.

Peculiarities of the molecular structure of Levemir (detemir) account for low variability of its pharmacodynamic properties and are responsible for the more predictable hypoglycemic effect and the lower risk of general and nocturnal hypoglycemic episodes in different age-groups of the patents suffering type 1 and 2 diabetes mellitus compared with other preparations of basal insulin. Moreover, insulin detemir (Levemir) does not affect the body weight of the patients due to its central action (rapid penetration across the hematoencephalic barrier, control of hunger and satiation, improved recognition of hypoglycemic states) and the influence on the synthesis of hormones regulating appetite and energy metabolism. Insulin detemir is shown to possess neurotropic properties, such as hepato-selective action on the liver, lipid metabolism, and sodium re-absorption.

The results of numerous clinical investigations carried out during the last years provide convincing evidence of the high effectiveness and safety of early initiation of insulin therapy. Of special interest are the studies conducted under conditions of real clinical practice. One of them is the Russian SOLOS observational program designed to evaluate the influence of intensification of the treatment of type 2 diabetes mellitus with oral hypoglycemic agents (OHA) supplemented by using insulin glargine in the patients who failed to be adequately compensated by OHA therapy alone. Another objective of this program was to find out the opinion of the patients and physicians about the SoloStar pen employed for injecting insulin glargine. The data concerning 1309 patients at the mean age of 59.5±8.8 years with type 2 diabetes mellitus and the mean duration of the disease 6.9±5.0 years were available for the analysis. The overwhelming majority of the patients presented with severe decompensation of carbohydrate metabolism, the mean fasting blood glucose level being 10.7±2.4 mmol/l and the HbA1c level varying from 7.2 to 18.2% (mean 9.6±1.5%). Supplementation of OHA therapy with insulin glargine caused the significant reduction of the HbA1c level to 8.1±1.0% (p<0.001) within 3 months after the onset of the combined treatment. The HbA1c level fell down to 7.2±0.9% (p<0.001) after 6 months 40.6% of the patients had HbA1c at the level below 7%. Fasting blood glucose levels decreased to 7.4±1.4 mmol/l and 6.3±1.0 mmol/l (p<0.001) at 3 and 6 months after the onset of insulin administration respectively. The number of daytime and nocturnal hypoglycemic episodes under effect of insulin glargine injections significantly decreased by the end of the study. Severe hypoglycemic episodes suffered initially by 8 (0.5%) patients totally disappeared 6 months after the initiation of the combined therapy. Most patients did not need hospitalization after supplementation of OHA treatment with insulin. The results of combined therapy with the use of disposable SoloStar pens were positively assessed by the overwhelming majority of both the patients and the physicians involved in the study.