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BACKGROUND: In 90% cases of girls and 25–60% cases of boys the cause of gonadotropin-dependent precocious puberty (PP) is unclear. Up to 25–27.5% of gonadotropin-dependent PP cases are monogenic and suggest autosomal-dominant inheritance with incomplete sex-dependent penetrance. To date, mutations in genes KISS1, KISS1R, MKRN3, DLK1 have been described as causal variants leading to precocious hypothalamic-pituitary axis activation in childhood. Genetic testing in patients with hereditary forms of PP can expand our knowledge of underlying molecular mechanisms of the disease and it is also necessary for genetic counselling.AIM: To study clinical features and genetic characteristics of patients with idiopathic gonadotropin-dependent precocious puberty.MATERIALS AND METHODS: A group of patients with idiopathic gonadotropin-dependent precocious puberty and positive family history (early or precocious puberty) was examined. Laboratory and instrumental diagnostic tests, full-exome sequencing (NGS, next-generation sequencing) were provided for all patients.RESULTS: The study included 30 patients (29 girls, 1 boy) with idiopathic gonadotropin-dependent precocious puberty. The median of patients age at the time of the examination was 7,2 years [6,5; 7,7]. Positive family history presented in all cases: in 40% of patients on father’s side, in 37% — on mother’s side, in 23% of patients PP was diagnosed in siblings. The fullexome sequencing was conducted to 21 patients: in 61,9% of cases (95% CI [40;79]) nucleotide variants were identified in genes, associated with gonadotropin-dependent precocious puberty. MKRN3 gene defect was detected in most cases (77% cases (95% CI [49; 92]), which consistent with international data on its highest prevalence in the monogenic forms of PP. In 23% of cases (95% CI [7; 50]) nucleotide variants were identified in other candidate genes associated with neuroontogenesis and neuroendocrine regulation mechanisms of hypothalamic-pituitary axis.CONCLUSION: Our study confirms that detailed family history data in children with PP provides a rational approach to molecular-genetic testing. Data of inheritance pattern and clinical manifestations will simplify the diagnosis of hereditary forms of disease and enhance genetic counselling of families, followed by timely examination and administration of pathogenetic therapy.

BACKGROUND: The majority of Kallmann patients have anosmia or hyposmia. This is how the disease is diagnosed. Some of them don’t have such complaints but olfactory dysfunction is diagnosed via olfactometry. Nowadays there is the lack of information about correlation between olfactometry results and subjective complaints. Correlation between olfactory bulbs size and olfactory dysfunction has been little studied.AIM: To explore olfactory bulb size and olfactory function in patients with congenital isolated hypogonadotropic hypogonadism. To correlate olfactory bulb sizes and smell test scores.MATERIALS AND METHODS: Single-centre comparative study. 34 patients were included. The main group consisted of 19 patients with hypogonadotropic (15 –with Kallmann syndrome, 4 — with normosmic hypogonadism). Olfactory bulbs MRI were provided to all the patients, olfactory test (Sniffin’ Sticks Test) and molecular-genetic studies were provided in all patients with hypogonadism. Control group consisted of 15 patients who were provided with orbits MRI. Olfactory bulbs were evaluated additionally in them.RESULTS: Normal size of olfactory bulbs were only in 1 patient with hypogonadism. Olfactory bulbs height and width were significantly smaller in patients with hypogonadism in comparison with control group (pCONCLUSION: Olfactometry was able to diagnose olfactory dysfunction in 78.5% (i.e. in 15 out of 19 patients with congenital isolated hypogonadotropic hypogonadism. However, anosmia complaints had only 11 out of 19 patients. It is the first results of olfactory bulb sizes in patients with hypogonadotropic hypogonadism in Russia. Uni — or bilateral hypoor aplasia were diagnosed in 94.7% patients with hypogonadism regardless of olfactory dysfunction. Bilateral olfactory bulbs hypoplasia were the most common MRI-finding (36.8%). Unilateral hypoor aplasia was diagnosed in 31.6% patients.

BACKGROUND: Gonadotropin therapy in boys with congenital isolated hypogonadotropic hypogonadism helps to increase testes volume and induce spermatogenesis in comparison with testosterone therapy. However, difficulties with dose titration, partial therapy success, absence of generally accepted regimen protocols don’t allow to use this therapy in order to induce puberty in adolescents with Kallmann syndrome or normosmic hypogonadotropic hypogonadism.AIM: To assess the effectiveness of combination hormonal replacement therapy via human chorionic gonadotropin and recombinant follicle stimulation hormone in adolescents with congenital isolated normosmic hypogonadotropic hypogonadism and with Kallmann syndromeMATERIALS AND METHODS: This is an open single-center prospective non-controlled study. Boys with hypogonadotropic hypogonadism were receiving hormonal replacement therapy for 12 months. Initial dose of human chorionic gonadotropin was 500 IU per week. Initial dose of recombinant follicle stimulation hormone was 37.5 IU per week. Doses were doubled in 6 months. Antropometric data, Tanner stage, testes volumes, inhibin B and anti-Mullerian hormone (AMH) levels were evaluated in all the patients before the treatment, after 6 and 12 months of the therapy.RESULTS: 8 boys with hypogonadotropic hypogonadism were included into the study. Median age before therapy initiation was 15.7 years [15.33; 16.41]. In 12 months after the therapy initiation puberty development, testosterone increase from 0.44 [0.34;0.62] to 4.39 [0.88;10.51] nmol/l (p=0.012), AMH decrease from 35.70 [18.00;59.00] to 14.41 [11.60;16.65] ng/ml were noted in all the patients (p=0.017). Testes volumes increase and inhibin B level increase were not statistically significant.CONCLUSION: Gonadotropin therapy is effective in order to puberty initiation in adolescents with congenital hypogonadotropic hypogonadism. In helps to achieve not only androgenization, but also to Sertoli cells maturation.

BACKGROUND: Loss-of-function mutations in the TSH receptor gene (TSHR) (NP_000360.2) are the potential causes of thyroid dysgenesis in patients with congenital hypothyroidism. Heterozygous variants of the TSHR gene lead to partial resistance to TSH, homozygous and compound heterozygous variants have been shown to cause CH due to thyroid hypoplasia or TSH resistance. Recently more and more articles in this field have appeared in the international literature sources, while local publications are limited. The studies are necessary to understand the etiology, pathogenesis of the disease, to improve the management of these patients.AIM: To assess the frequency of incidence of pathogenic variants of the TSHR gene in children with CH due to thyroid dysgenesis. To study inheritance and phenotypic patterns of CH in families.MATERIALS AND METHODS: In this single-center interventional one-stage non-comparative study a group of CH patients was examined. The patients underwent neck ultrasound and radionuclide imaging. The examination was performed 14 days after hormone replacement therapy suspension or prior to its initiation. The structure of thyroid dysgenesis was estimated, genetic testing for mutations in the TSHR gene was performed using the NGS method.RESULTS: The study included 95 children with primary CH (75 girls; 20 boys). The patients’ median age at the time of examination was 6.2 years [4.5; 8.9], the median level of neonatal TSH was 157.5 mU/l [60.9; 257.2]. Ectopic thyroid was found in 52% of children, aplasia in 36%, hypoplasia and hemiagenesis in 10% and 2%, respectively. In 5.4% of cases (in 5 out of 95 patients), different variants of the TSH gene were detected. Two children had heterozygous p.R450H and p.D487N variants in TSHR gene, two patients was homozygous for the p.S49Afs * 9 variant, one child had compound heterozygous variants (p.A485D and p.R450H). According to ultrasound imaging, all patients had thyroid hypoplasia of varying severity. Three children underwent thyroid scintigraphy, which revealed decreased 99mТc pertechnetate uptake (0.3–0.9%).CONCLUSION: In our study, the incidence of different variants in the TSHR gene in children with CH was 5.3%. Our analysis uncovered two previously undescribed variants. Genetic testing may be able to help with making the diagnosis, patient’s management, and genetic counseling.

The prevalence of obesity and related metabolic disorders in children and adolescents in the Russian Federation is steadily increasing, which requires healthcare professionals to search for new methods of treatment and prevention. The treatment of childhood obesity should be based on a comprehensive approach, including diet therapy, increased physical activity, behavioral therapy and psychological support. To increase the effectiveness of the formation of new eating habits and proper eating behavior, as well as to increase the adherence of children and adolescents to treatment, drug therapy of obesity is used, aimed primarily at reducing appetite. Considering the efficacy and safety of glucagon-like peptide 1 analog (Liraglutide) in adolescents, as well as a small number of gastrointestinal side effects, this drug is promising in the complex treatment of childhood obesity. This review presents an analysis of the literature on non-medicated and drug-based methods of treatment of childhood obesity.

Itsenko–Cushing’s disease is a rare, multisystem disease characterized by the presence of endogenous central hypercortisolism due to an ACTH-secreting brain tumor. The frequency of Itsenko-Cushing’s disease in adulthood is 0.7–2.4 per 1 million population, and only 10% of all cases occur in childhood. The age of onset of the disease in children is on average 12.0–14.8 years. A typical manifestation of the disease in children, along with obesity and arterial hypertension, is a decrease in growth rates. The gold standard for diagnosing central hypercortisolism is MRI of the brain, however, the effectiveness of this method in children is only 50%. The main method of treatment is neurosurgical transnasal transsphenoidal removal of endosellar pituitary adenoma, which makes it possible to achieve remission in more than 65% of cases. This article describes a clinical case of Itsenko–Cushing’s disease in a 6.5-year-old child with obesity, arterial hypertension, atypically «high» stature, average velocity and non-visualizable corticotropinoma. The article presents the stages of diagnostic search, the complexity of differential diagnosis and surgical treatment, the results of follow-up after the treatment and a brief review of the literature.

BACKGROUND: Hyperthyreoidism due to Graves’ disease is a rare disorder in pediatric practice. There is 2 treatment options in Graves’ disease: medical treatment and definitive treatment, including surgery and radioactive iodine. Each method has its advantages and disadvantages. If medical therapy is ineffective the choice between radical treatment method is raised: radioactive iodine or total thyroidectomy. In this research we analyze treatment outcomes in pediatric Graves’ disease patients after different radical treatment methods.AIM: Comparative analysis of radical treatment outcomes in pediatric patients with Graves’ disease.MATERIALS AND METHODS: Retrospective and prospective one-center research of 122 patients with Graves’ disease after radical treatment (between 2016 and 2021)RESULTS: The mean age was 13.5±3,5 year at the moment of examination. Patients were divided into 2 groups due to the radical treatments method: 1 group (n=60) were children after surgical treatment, 2 group (n=62) — after radioactive iodine. The mean dose of medical treatment in these groups did not reliably differ (p=0,06), duration of the medical treatment was reliably longer in patients after radioactive iodine (p=0,024). Graves’ orbitopathy was diagnosed in 58 patients (47,5%) and met equally often in both groups, but active stage of Graves’ orbitopathy was diagnosed only in patients from the 1st group. Thyroid size was reliable bigger in patients from the 1st group (p=0,004), and thyroid gland nodes were diagnosed only in patients from 1st group (p=0,0007).CONCLUSION: RI can be considered an effective and safe treatment for GD. The effectiveness of RI depends on the volume of the thyroid gland; according to the results of the constructed ROC curve, the risk of repeated RI is higher with a volume of more than 55 cm3. Also radioactive iodine is undesirable if there is signs of ophatalmopathy due to its possible deterioration. According to the results of the study hypoparathyroidism after surgical treatment was diagnosed in 20%, recurrent laryngeal nerve injury was diagnosed after surgical treatment in 5% of patients. In patients with identified nodular goiter according to the results of ultrasound, surgical treatment is preferable due to the impossibility of excluding thyroid cancer.

BACKGROUND: The frequency of ectopia of thyroid gland among all types of dysgenesis varies from 30 to 70%, its most common localization is the root of the tongue. Otorhinolaryngologists, oncologists, pediatricians can take lingual ectopia for hypertrophy of the lingual tonsil or fibroma of the tongue root, which leads to unreasonable surgical treatment. Thyroid scintigraphy plays a key role in the diagnosis of ectopia.AIM: To assess the etiological structure of congenital hypothyroidism (CH) and demonstrate the clinical course in patients with ectopic thyroid tissue in the root of the tongue.MATERIALS AND METHODS: A group of patients with CH was examined. All patients underwent neck ultrasound and radionuclide imaging. The examination was carried out against the background of the abolition of hormone replacement therapy for 14 days or before its initiation. Patients with ectopia in the root of the tongue underwent videofibrolaryngoscopy. Some patients underwent a genetic study with using genes panel of a panel of candidate genes responsible for the development of CH using the NGS method. The molecular genetic study was conducted to some patients, next-generation sequencing with the genes panel.RESULTS: The study included 73 patients with primary CH aged from 2 weeks to 17.3 years: 69 children were diagnosed based on the results of neonatal screening, 4 children with thyroid ectopia were first examined older than 6 years. The median age of patients at the time of the examination was 6.9 years [4.8; 10.0]. By data of ultrasound aplasia was diagnosed in 47.9% of patients, one child had hemiagenesis and ectopic thyroid tissue of various localization was detected in 26.0% of children. In 24.7% of children thyroid tissue was found in a typical location. Scintigraphy confirmed thyroid aplasia in 65.7% of children. Examination revealed various variants of ectopically located thyroid tissue in 31 children (42.4%): thyroid ectopia in the root of the tongue in 25 children (80.6%), ectopia in the sublingual region in 5 children (16.2%), double ectopia was detected in 1 child. The median level of TSH in newborns with ectopic thyroid gland was 124 IU/ml and was significantly lower than in children with aplasia — 219 IU/ml, pCONCLUSION: Combination of two methods is the best diagnostic approach to determine the etiology of CH — ultrasound and scintigraphy studies compensates deficiencies of each other. Our study demonstrates the importance of scintigraphy in children with CH and patients with the formation of the root of the tongue and the anterior surface of the neck in order to avoid unnecessary removal of the thyroid gland. In case of confirmation of thyroid ectopia in the root of the tongue and in the absence of symptoms of obstruction or bleeding, it is recommended to refer the patient to an endocrinologist for conservative treatment.

Congenital hypothyroidism is an important issue of pediatric endocrinology at which timely diagnosis and treatment can prevent the development of severe cases of the disease. The developed clinical guidelines are a working tool for a practicing physician. The target audience is pediatric endocrinologists and pediatricians. They briefly and logically set out the main definition of the disease, epidemiology, classification, methods of diagnosis and treatment, based on the principles of ­evidence-based medicine.

The thyroiditis in children are urgent problem of pediatric endocrinology due to the widespread occurrence and characterized by clinical and pathogenetic heterogeneity. The developed clinical guidelines are the main working tool of the practitioner. They briefly and structurally present the main information about the epidemiology and modern classification of thyroiditis, methods of their diagnosis and treatment based on the principles of evidence-based medicine.

Skeletal muscles make up about 25% of the total mass in children and more than 40% in adults. Studies of the last twenty years have shown that along with the main functions, muscle tissue has hormonal activity. It was found that myocytes are able to release signaling molecules-myokines. They act auto-and paracrine within the muscle, and at a high level-through the systemic circulation, carrying out interactions between skeletal muscles and various organs and tissues, such as the liver, bone and adipose tissue, the brain. It is proved that the key factor in the expression of myokines is physical activity, and their level largely depends on physical fitness, the amount of skeletal muscle mass and its composition (the ratio of fast and slow fibers), on the intensity and duration of physical activity. Myokines have a wide range of physiological effects: myostatin suppresses the growth and differentiation of muscle tissue, and decorin, acting as its antagonist, promotes muscle hypertrophy. Interleukin 6 provides an energy substrate for contracting muscle fibers, fibroblast growth factor 21 activates the mechanisms of energy production during fasting and improves tissue sensitivity to insulin; irisin stimulates thermogenesis, glucose uptake by myocytes, and also contributes to an increase in bone mineral density. The study of myokines is one of the key links in understanding the mechanisms underlying obesity and metabolic complications, the consequences of a sedentary lifestyle, as well as the implementation of the action of physical activity. Taking into account the physiological effects of myokines in the body, in the future they can become therapeutic targets for the treatment of these conditions.

BACKGROUND: Toxic nodular goiter (TNG) is a rare disease in which the cause of hyperthyroidism is the presence of a node or nodes that autonomously secrete thyroid hormones. With children and adolescents this condition is extremely rare — in 5–7.5% of all cases of nodular goiter. Therapy of toxic nodular goiter is aimed at relieving the symptoms of hyperthyroidism taking into account the malignant potential of the nodular formation. In the available literature, there are no data on the clinical course, comparative results of cytological and histological data in patients with toxic nodular goiter, which debuted in their childhood.AIM: Analysis of the features of the clinical course, comparison of the results of cytological and histological studies of toxic nodular goiter in children and adolescents.MATERIALS AND METHODS: A retrospective, single-center study of 21 patients with single-nodular toxic goiter, hospitalized at the Endocrinology Research Centre in the period from January 2016 to December 2019.RESULTS: The mean age at the time of the survey was 13.9 years. Thirteen patients (65%) had manifest thyrotoxicosis, and seven (35%) had subclinical hyperthyroidism. More than half of children — 57.1% (n = 12) did not receive thyreostatic therapy. The cytological picture in 11 patients (61.1%) corresponded to benign changes (nodular colloid goiter or adenomatous goiter) — Bethesda II, in 4 patients — follicular tumor — Bethesda IV, in 4 children the study was not informative. 19 patients (90.5%) underwent surgical treatment (hemithyroidectomy). According to the results of histological examination, follicular adenoma was found in 44.4% of children with nodular toxic goiter with benign results of TAB (Bethesda II) and was found in 50% with revealing follicular neoplasia (Bethesda IV).CONCLUSION: For the first time in the Russian Federation was carried out a comparative analysis of the characteristics of cytological and histological studies in children with toxic nodular goiter. It is significant that only in 10.5% (n=2) cytological and morphological results were consistent. The choice of radical treatment tactics should take into account the high frequency of mismatches between histological and morphological studies.

Iodine deficiency disorders is a sweeping term that includes structural and functional impairment of the thyroid gland.These clinical guidelines include algorithms for the diagnosis and treatment of euthyroid goiter and nodular/ multinodular goiter in adults and children. In addition, these clinical guidelines contain information on methods for an adequate epidemiological assessment of iodine deficiency disorders using such markers as the percentage of goiter in schoolchildren, the median urinary iodine concentration, the level of neonatal TSH, the median thyroglobulin in children and adults. As well from these clinical guidelines, you can get to know the main methods and groups of epidemiological studies of iodine deficiency disorders.

BACKGROUND: Myokines are synthesized by myocytes and released into the bloodstream in response to muscle fiber contraction. They have a positive effect on carbohydrate and lipid metabolism, muscle mass growth, osteogenesis, increase tissue sensitivity to insulin, counteract inflammation of adipose tissue. The study of their secretion in response to physical activity (FA) can help to personalize the therapy of obesity.AIM: to study the features of the secretion of myokines in children with constitutionally exogenous obesity during physical activity of different duration and intensity and to evaluate their relationship with the parameters of the body composition.MATERIALS AND METHODS: 26 children (10 boys and 16 girls) were included in the study 15 [13; 16] years old, SDS BMI: +2.91 [2.24; 3.29], with sexual development according to Tanner 4–5. Two groups of 13 people were formed by random distribution. Group I performed FA (walking on a treadmill under the control of heart rate) of different duration: 30 and 60 minutes at the same intensity (less than 3 metabolic equivalents (MET)). Group II — FA of different intensity: low — less than 3 METH and moderate — 3–6 METH with the same duration of 45 minutes. Commercial kits for enzyme immunoassay were used to determine the level of myokines. The assessment of the compositional composition of the body was carried out by bioimpedance analysis (analyzer In Body 770, South Korea) in the morning, on an empty stomach. Statistical processing was carried out using STATISTICA v.12.0 (StatSoftInc., USA). The results are presented in the form of median (Me) and quartiles (Q1; Q3) corresponding to 25 and 75 percentiles. The critical significance level (p) was assumed to be RESULTS: moderate intensity FA leads to a maximum increase in the level of myokines: interleukin-6 (IL-6) by 215.7% and decorin by 34.3%, a decrease in the level of irisin by 16.5%. An hour-long low-intensity workout leads to a moderate increase in the level of IL-6 by 80.5%, to a decrease in the level of irisin by 31.1%. Myostatin increases equally both after 60-minute FA and after moderate intensity FA by 30.9% and 31.8%, respectively. Short low-intensity FA (lasting 30 minutes) it is not accompanied by a significant increase in the expression of myokines. The relationship between the amount of muscle (r=0.65), lean (r=0.62), fat-free mass (r=0.64) and the level of decorin after FA was noted. There was no statistically significant relationship between the parameters of the body composition and the levels of IL-6, myostatin, and irisin. There were no gender differences in both basal and stimulated myokine secretion.CONCLUSION: Moderate intensity FA and low intensity 60-minute FA are most effective for obese children. A 30-minute low-intensity FN is insufficient to increase the secretion of myokines by skeletal muscles.

Donohue syndrome (DS), also called Leprechaunism, is the most severe form of insulin resistance associated with biallelic mutations in INSR gene (OMIM: 147670). The approximate incidence of this syndrome is 1 per 1000000 births. Patients are present with typical clinical features such as intrauterine growth retardation, facial dysmorphism, severe metabolic disturbances, hepatomegaly and hypertrophic cardiomyopathy. Most DS patients die within the first two years of life due to respiratory infections, severe hypoglycemia or progressive cardiomyopathy. Treatment options are limited and no specific therapy exist for DS. Given the similarities between insulin and insulin-like growth factor 1 (IGF-1) receptors, recombinant human IGF-1 (rhIGF-1) has been used to treat severe insulin resistance including DS.We report the case of a male patient with genetically confirmed Donohue syndrome, successfully treated with continuous subcutaneous IGF1 infusion via insulin pump. We observed improvement of glycemic control, liver function and cardiac hypertrophy regression following 15-month IGF1 therapy.

BACKGROUND: Self-monitoring of blood glucose (SMBG) with glucometers provides only a snapshot of the glycemic profile and is accompanied by significant psychological discomfort and pain, especially in children. Flash Glucose Monitoring System — FreeStyle Libre (FSL) overcomes many of the barriers associated with glucose measurement and improves metabolic control.AIM: To evaluate the efficacy of FSL in children with type 1 diabetes mellitus (T1DM) in terms of glycemic control, episodes of severe hypoglycemia (SH) and diabetic ketoacidosis (DKA).MATERIALS AND METHODS. A multicenter, prospective, observational study in real clinical practice was carried out. A total of 469 subjects (258 boys and 211 girls) aged 4–18 were included in the study. The median age was 11.3 (8.4–14.6) years, duration of T1DM — 4.2 (2.1–7.1) years. After FSL start, patient was followed up for 6 months.RESULTS: After 3 and 6 months of FSL use, HbA1c significantly decreased from 7.4% to 7.1% and 7.2%, respectively (pCONCLUSION: The Study demonstrated a significant improvement in metabolic control in children with T1DM 6 months after FSL start: decrease in HbA1c, accompanied by reduction in incidence of DKA and SH.

BACKGROUND: Cushing’s disease (CD) is a rare disorder of a persistent cortisol excess caused by ACTH-secreting pituitary tumor (corticotropinoma). Transsphenoidal surgery (TSS) is a treatment of choice for СD, which effectiveness range is from 70 to 90%. Recurrence rate after successful treatment is about 25%. If surgical treatment is unsuccessful or recurrence appear, radiation treatment is the next therapeutic option, which effectiveness range is also 90%, but the hypopituitarism rate as side effect of treatment is higher. Preoperative predictors of remission and recurrence are still unexplored what leads to further investigations.AIM: Analysis of remission and recurrence rates of pediatric CD after successful treatment according to preoperative MRI and therapeutic option.MATERIALS AND METHODS: We conducted a retrospective analysis of 90 pediatric patients with CD who were observed between 1992 and 2020 at the Endocrinology Research Centre.RESULTS: The most common clinical symptoms of CD were weight gain [94%] and growth retardation [72%]. Pituitary tumor was detected on radiological imaging in 53/90 patients [59%], there were no signs of visible adenoma in 37/90 of patients [41%]. 63 of 90 patients underwent TSS (70%), 27 patients underwent radiosurgery (30%). Remission rate after TSS was 71% [45/63], after radiosurgery — 85% [23/27]. There were no significant differences in remission rates after radical treatment according to preoperative MRI results (P=0.21 after TSS and P=0.87 after radiosurgery, х2 analysis). Recurrence after successful treatment was diagnosed in 10 patients. There were no significant differences in time to recurrence according to preoperative MRI results (P=0.055, х2 analysis). Time to recurrence was statistically different after TSS compared to radiosurgery (P=0.007, Kaplan–Meier analysis) and in the group with developed adrenal insufficiency in the early postoperative period (P=0.04, Kaplan–Meier analysis). Analysis of side effect of treatment showed that the frequency of growth hormone and gonadotrophin deficiency was statistically higher after radiosurgery (р< 0.01, Kruskel–Wallis ANOVA test). Diabetes insipidus was diagnosed only after TSS.CONCLUSION: Results of our study didn`t allow to use MRI-results as predictor of effectiveness treatment in pediatric CD. Therapeutic option has an impact on time to recurrence, not on recurrence rates. The frequency of growth hormone and gonadotrophin deficiency was statistically higher after radiosurgery compared to TSS. Further studies are needed to identify predictors of remission and recurrence in CD.

The presented clinical case of a girl with a salt-wasting form of congenital adrenal hyperplasia in combination with chronic recurrent infection and lower urinary tract dysfunction demonstrates the need to change conventional two-staged approach to surgical feminization in favor of a one-stage intervention in order to prevent a progression of genitourinary complications. After controlling for the underlying condition, the one-stage feminization was performed, including modified tightening introitoplasty using a Passerini-Glazel flap and a correction of hypertrophic clitoris and labia minora. Good short- and long-term results were achieved.

Childhood obesity is an urgent problem of pediatric endocrinology due to the widespread occurrence, the development of metabolic complications and their steady tracking into adulthood. The developed clinical guidelines are the main working tool of the practitioner. They briefly and structurally present the main information about the epidemiology and modern classification of obesity, methods of its diagnosis and treatment based on the principles of evidence-based medicine.

Congenital isolated hypogonadotropic hypogonadism includes a group of diseases related to the defects of secretion and action of gonadotropin-releasing hormone (GNRH) and gonadotropins. In a half of cases congenital hypogonadism is associated with an impaired sense of smell. It’s named Kallmann syndrome. Now 40 genes are known to be associated with function of hypothalamus pituitary gland and gonads. Phenotypic features of hypogonadism and therapy effectiveness are related to different molecular defects. However clinical signs may vary even within the same family with the same molecular genetic defect. Genotype phenotype correlation in patients with congenital malformations prioritizes the search for mutations in candidate genes. There are data of significant contribution of oligogenicity into the phenotype of the disease are presented in the review. Moreover, an issue of current isolated hypogonadotropic hypogonadism definition and classification revision is raised in the review due to hypogonadotropic hypogonadism development while there are mutations in genes not associated with GNRH neurons secretion and function.

The article provides brief data on the prevalence of endocrine diseases in children in the Russian Federation, provides the main normative documents regulating the provision of medical care in the field of «pediatric endocrinology», data on the state of the bed fund (children's endocrinological beds), the number of specialized children's departments in the Russian Federation, the number of children's endocrinologists.

The paper presents the results of treatment in 45 adult patients with somatotropic insufficiency. The study was undertaken to compare the efficiency of treatment of the patients with different doses of the human growth hormone Humatrop and to evaluate its safety. The treatment lasted 6 months. Within the first 3 months, Group 1 patients (n = 24) received Humatrop in a dose of 3.0 pg/kg/day, Group 2 patients (n = 24) had its dose of 6.0 pg/kg/day. Later on the dose was doubled in both groups. The criteria for therapeutic efficiency were changes in the body’s structure (LBM, FM), insulin-like growth factor 1 (IGF-1), and IGF-binding protein-3. In both groups, there was an increase in lean body mass (p < 0.001 in Group 1 and p < 0.018 in Group 2) and a decrease in fatty body mass (p — 0.005 and p < 0.001, respectively) by the end of treatment. The levels of IGF-1 and IGF-binding protein-3 were higher just by the end of the third month of treatment (p < 0.001). There were group differences in all the indices of therapeutic efficiency throughout the treatment period. Side effects were slightly more frequently observed in Group 2 patients. The findings allow Humatrop to be recommended in a dose 3 pg/kg/day within the first 3 months of treatment since the dose is as effective as the larger dose (6 pg/kg/day). Further, the dose of the agent should be changed on an individual basis depending on the levels of IGF-1 and the presence of adverse reactions.

The article is devoted to the secondary hypothyroidism: specific features of diagnosis and treatment

Congenital hypothyroidism – thyroid disease, which occurs approximately 1: 3000-4000 newborns. Early onset of substitution levothyroxine therapy prevents the development of mental retardation. Neonatal screening of сongenital hypothyroidism in Russian Federation was started in 1994. This review presents the data of Russian and foreign researchers about the intellectual outcome of children and adolescents with сongenital hypothyroidism.