[Hormonal and genetic causes of cryptorchidism].

Cryptorchidism is the most frequent congenital disorders of the reproductive system, is present in 2-3% of term newborn boys. Genes involved in embryonic testicular migration are known but their role in cryptorchidism development are not investigated enough. Genetical causes of cryptorchidism are identified in 5-7% of patients. The article contains data on the role of insulin-like peptide 3 and its receptor, anti-Müllerian hormone, gonadotropins, androgens in embryonic testicular migration. INSL3 and AMH are presented as markers of testicular dysfunction associated with cryptorchidism. Hypogonadotropic hypogonadism is also associated with cryptorchidism and can be diagnosed based on it. Results of modern investigations determine the necessary of hormonal and genetical examination of patients with isolated cryptorchidism to detect causes of cryptorchidism and manage of patients.

[Congenital adrenal hyperplasia due to 11ß-hydroxylase deficiency: late diagnosis and gender reassignment in a two-year-old child].

11ß-hydroxylase deficiency is a rare autosomal recessive disorder due to impaired steroidogenesis in the adrenal cortex caused by pathogenic mutations in the CYP11B1 gene. The main clinical manifestations are determined by a deficiency of cortisol, ACTH hyperproduction, excessive androgens secretion and the accumulation of 11-deoxycorticosterone, which leads to the development of arterial hypertension. In the diagnostic search, it is important to take into account the ethnicity of the patient, since the frequency of the disease and the prevalence of mutations differ between ethnic groups. The article presents a clinical case of 11ß-hydroxylase deficiency as the result of compound heterozygous mutations in the CYP11B1 gene in a patient of Turkic origin. This case shows the clinical manifestations and the development of complications of 11ß-hydroxylase deficiency, the stages of differential diagnosis of patients with 21-hydroxylase deficiency.

[Clinical guidelines «Obesity in children¼].

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.

[Clinical guidelines «Precocious puberty¼].

The precocious puberty is an urgent problem of pediatric endocrinology characterized by clinical and pathogenetic heterogeneity. The appearance of secondary sex characteristics before the age of 8 years in girls and 9 years in boys requires timely diagnosis and the appointment of pathogenetically justified treatment in order to achieve the target indicators of final growth and prevent social deprivation. 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 рrecocious puberty, methods of its diagnosis and treatment based on the principles of evidence-based medicine.

[Diagnostic strategy of the pediatric urologist-andrologist when examining a newborn with sex differentiation disorders].

Sex differentiation disorders (SDD) is the discrepancy between the genetic, gonadal and phenotypic sex of the child. Treatment of children with this pathology is a multidisciplinary problem relating to the different aspects of pediatric urology-andrology. The pediatric urologist-andrologist, who, in addition to the pediatric endocrinologist and genetics, examines newborns with sex differentiation disorders in perinatal centers and outpatient department, should be informed about proper diagnostic evaluation of children with such pathology. The presence of ambiguous genitalia requires such measures, as an exclusion of life-threatening conditions associated with virializing congenital adrenal hyperplasia in girls; determination of the chromosomal gender as a basis when choosing a legal gender for a child, the study of the hormonal status at an early age of 3-6 months to determine a prognosis of the gonadal hormonal function, an identification of exact variant of the SDD. Following the diagnostic algorithm at an early age with a proper sequence, patient referring determines the success of diagnostic and therapeutic procedures.

[Diagnosis of congenital sexual maldevelopment in boys with bilateral inguinal cryptorchidism during minipuberty].

BACKGROUND: Cryptorchidism is associated with the risk of infertility and can be a symptom of congenital sexual maldevelopment. AIM: To assess the functional status of the pituitary gland and sexual glands in boys aged 16 months with bilateral inguinal cryptorchidism and to reveal the congenital sexual maldevelopment during minipuberty. METHODS: Twenty-one boys aged 16 months (the minipuberty period) with isolated bilateral inguinal cryptorchidism and 40 healthy boys aged 23 months (the control group) were examined. The gonadal status was assessed and serum levels of sex hormones were measured. Molecular genetic testing was performed if there were indications for it. RESULTS: The results of hormone analysis were used to divide the patients into three groups: group 1 patients with normal serum levels of gonadotropin and sex hormones; group 2 patients with elevated gonadotropin level and low levels of anti-Mllerian hormone (AMH) and inhibin B, and group 3 patients with zero gonadotropin and testosterone levels and low levels of AMH and inhibin B. Group 1 patients had no functional disturbances in the pituitarygonadal system. Failure of Sertoli cells associated with a high risk of infertility was detected in group 2 patients. Group 3 patients were diagnosed with hypogonadotropic hypogonadism verified by molecular genetic tests. CONCLUSION: Hormonal testing of patients with bilateral inguinal cryptorchidism during minipuberty makes it possible to early detect the congenital sexual maldevelopment.

[Sexual development of boys with hypospadias].

The article presents the results of a clinical evaluation of 39 boys with hypospadias aged 10-15 years. The examination included clinical assessment of pubertal development, and Doppler ultrasound scan of the gonads, transrectal ultrasound of the prostate in adolescents over 14 years, the definition of serum levels of gonadotropins, sex steroids and inhibin B. Puberty in boys with hypospadias is characterized by later appearance of pubarhe, microphallus, lack of testicular blood flow, and hypotrophy of the prostate. Statistically significant difference in sexual development of boys with penile and scrotal hypospadias was detected. On the basis of the hormonal examination, a violation of function of Sertoli cells in 43% of boys with the penile hypospadias and in 68% with scrotal hypospadias was identified. Leydig cell dysfunction was not found.

[Transcranial physical methods for correction of neuroendocrine and cerebral disorders in adolescent girls with obesity].

AIM: To evaluate the efficiency of combined central and local physiotherapeutic procedures in correcting neuroendocrine and menstrual disorders in pubertal girls (PG) with obesity. SUBJECTS AND METHODS: Eighty-seven PGs, including 67 with different levels of obesity and 20 healthy non-obese girls, were examined. The hormonal profile, lipidogram, and fasting insulin and glucose levels were studied. Body mass index (BMI) and waist and hip circumferences were estimated. The functional state of the central nervous system was studied by electroencephalography. The parameters of the autonomic nervous system were estimated by cardiointervalography. The PGs with obesity were divided into 2 groups: a study group (SG) (n = 40) and a control group (CG) (n = 27). The healthy PGs (n = 20) formed a comparison group. The SG patients received bitemporal transcranial magnetic therapy in combination with frontomastoid transcranial electrostimulation, as well as myoelectrostimulation of the anterior abdominal wall, by transferring the area of stimulation from right to left hypochondrium. A course consisted of 10-15 daily sessions. CG had placebo physioprocedures (with disconnected electrodes). RESULTS: After 6-month treatment, SG and CG showed average reductions in BMI by 5.9 and 2.5 kg/m2, respectively. Lipidograms normalized in 70%; menstrual cycles were restored in 25 of 30 patients with impaired cycles in SG and in 1 of 22 in CG. Hormonal profiles were significantly improved in 62.5% of the patients in SG and unchanged in CG. CONCLUSION: The high efficiency of combined (central and local) physiotherapeutic procedures is likely to be dueto the normalization of pituitary-ovarian relationships and enables one to recommend the proposed procedure in a rehabilitation program for PGs with obesity and reproductive system disorders.

[Mental, autonomic and neurophysiological disturbances in patients with obesity and their treatment with transcranial stimulation].

Authors studied 85 patients, aged from 45 to 68 years, suffered from obesity (stage I and stage II) for more than 5 years with concomitant arterial hypertension and atherosclerosis. Patients were randomized into two groups. Patients of the main group received transcranial stimulation (TS) along with standard treatment with antiaggregant vascular drugs and hypocaloric diet. Patients of the control group received placebo TS procedures with turned-off electrodes. The TS treatment was carried out using frontal-mastoid recording with the by-turn stimulation of the right and left hemispheres (frequency = 10Hz, number of daily sessions = 10-12). Psychometric scales, rhythmocardiography, EEG and evaluation of lipid peroxidation activity were used to assess the patient's status. Positive changes for most of the parameters used in the study were noted in the main group compared to the control one. The body-mass index was decreased by 9.8% in the main group.

[Mental and autonomic disorders in children and adolescents with diabetes mellitus type I and their correction using color and rhythm therapy].

The objective of the study was to work out a method of color and rhythm therapy (CRT) for correction of mental and autonomic disorders in children with diabetes mellitus type I. The elaboration of the method was based on the results of examination of 62 patients, aged 7-16 years. In addition, a psychometric assessment of anxiety (the Spielberger-Khanin test), stress resistance and communicative abilities (the Luscher color test), depression (the scale of Saint-Petersburg Bekhterev's Psychoneurological Research Institute) and autonomic dysfunctions (the Vein's questionnaire) was performed. CRT was conducted with the apparatus"Color-rhythm" that allows to perform stimulation with the light of specified length. The high effectiveness of CRT in the correction of mental and autonomic disorders depending on the character of disorders and effects of separate photic stimuli (red or yellow, green and blue), sequence and rhythm of their presentation is demonstrated. The choice of automatic working regime of the apparatus is proved to be optimal.

[Transcranial magnetic electro-stimulation with alternate action on brain hemispheres in the correction of cerebral disturbances in children with diabetes mellitus type 1].

Correction of psychoemotional and autonomic disturbances in children 7-17 years old with diabetes mellitus type 1 was conducted using transcranial magnetic electro-stimulation with alternate action on brain hemispheres (main group, 42 patients). The method includes the combined action of magnetic field pulses and series of electric impulses; magnetic and electric stimulation were performed synchronously - at first, on one brain hemisphere, then on another hemisphere with alternation frequency 9.5-10.5 Hz. A comparison group consisted of 44 patients with diabetes mellitus type 1 who received physiotherapeutic treatment as a combination of transcranial magnetic therapy and electro-stimulation with simultaneous action on both brain hemispheres. Treatment duration was 10 sessions. Treatment efficacy was assessed by the decrease in frequency and intensity of complaints, improvement of patient's health status measured (a scale for assessment of activity, health perception and mood) and improvement of the status of the autonomic nervous system (Vein's questionnaire), mental sphere (the Luscher color test) and cognitive traits (The Concentrated Attention Test of the Toulouse-Pierron Factorial Battery). The status of the autonomic nervous system was evaluated before and after the treatment using cardiointervalography. Brain bioelectrical activity was assessed using encephalography. Significant reduction of autonomic, psychoemotional and cognitive disturbances, normalization of brain bioelectrical activity due to the α-rhythm organization and arrhythmia removal were identified in the main group after the treatment. No adverse effects of this physiotherapeutic treatment was found.

[Congenital disorders of gonadal differentiation: clinico-morphological variants and surgical treatment].

The article presents the results of examination and surgical treatment of 25 patients with congenital disorders of gonadal differentiation. Survey plan included an assessment of the external genitalia, karyotyping and molecular analysis of Y-chromosome, determination of serum gonadotropins and testosterone levels, visualization of the gonads using ultrasound and laparoscopy methods, and intraoperative morphological examination of the material. Based on the results of a comprehensive survey, mixed testicular dysgenesis was identified in 25% of patients, complete testicular dysgenesis--in 16%, partial gonadal dysgenesis--in 44%, ovotesticular violation of sexualization--in 16% of patients. Clinical, macroscopic and morphological characteristics of each of these options are defined. The choice of sexual identity and tactics of surgical treatment are explained.

[Preclinical diagnostics and correction of the disturbed renal blood flow in the children presenting with diabetic nephropathy].

The present study included 86 children aged between 7 and 17 years with type 1 diabetes mellitus from 1 to 15 years in duration. In all the patients, renal blood flow was investigated with the use of ultrasonic dopplerography. The results of the study suggest disturbances of intrarenal hemodynamics that manifested themselves as enhanced resistance of renal arteries from periphery to the centre in the patients at the hyperfiltration stage of diabetic nephropathy (DN) in conjunction with the reduced velocity of blood flow in inter-lobular and segmental arteries. In contrast, the patients at the microalbuminuric stage of diabetic nephropathy exhibited increased resistance and reduced velocity of blood flow in the main renal veins. In 35 patients presenting with diabetic nephropathy, hemodynamic correction was achieved by the application of the traveling pulsed magnetic field (TP-MF) to the renal region using an AMO-ATOS-E apparatus (Russia). This treatment resulted in normalization of the characteristics of renal blood flow. It is concluded that TPMF has good prospects for the use as a component of the combined treatment of diabetic nephropathy.

[Autonomic dysfunction syndrome and diabetic cardiac autonomic neuropathy in children with diabetes mellitus type I. The correction method].

We assessed the state of the autonomic nervous system in 90 children with diabetes mellitus type I. The autonomic dysfunction syndrome was found in 58,9% and diabetic cardiac autonomic neuropathy in 28,9% of patients. We revealed the high risk of the development of diabetic cardiac autonomic neuropathy in children with diabetes mellitus type I in the presence of the autonomic dysfunction syndrome. It has been shown that the early treatment of functional disturbances of the autonomic nervous system using transcranial magnetic stimulation is necessary to prevent the manifestation of diabetic cardiac autonomic neuropathy.

[Intravesical electrostimulation and magnetotherapy in chronic pyelonephritis and cystitis in children with urodynamic disorders].

The results of the treatment of 38 children (6 boys and 32 girls, age 6-14 years) with chronic pyelonephritis and/or cystitis complicated with neurogenic dysfunction of the urinary bladder (NDUB) and/or vesicoureteral reflux (VUR) of the first-third degree demonstrate efficacy of intravesical electrostimulation (IVES) and adrenal magnetotherapy. IVES was conducted with high-frequency current impulses (2.2 kHz) by means of INTRASTIM attachment to the device AMUS-01-INTRAMAG in the region of the urethrovesical anastomosis via solution of the drugs for instillation. As the result of exposure to both physical factors in the presence of standard medication, NDUB symptoms alleviated (by E.L. Vishnevsky's criteria) by 59.5% against 38.1% in the control group. Dopplerographic examination of renal vessels stated a 24.3% increase in blood flow in the major renal artery in the study group against 10.5% in the control. The proposed complex pharmacological plus physiotherapeutic treatment of chronic pyelonephritis and cystitis in abnormal urodynamics resulted in a 2.2-fold decrease in the number of recurrences compared to the standard treatment.

Non-pharmacological correction of impaired microcirculation in children with diabetic polyneuropathy.

A total of 25 boys and 20 girls aged 5-17 years with type I diabetes mellitus and disease durations of 2-10 years were studied. All had diabetic polyneuropathy. The microcirculation was studied by laser Doppler flowmetry. Treatment consisted of using a running impulse magnetic field. This method was found to be effective in diabetic polyneuropathy with the running field along the limb towards the periphery at a run velocity (field modulation frequency) being a multiple of the nerve fiber spike conduction velocity.

[The effectiveness of transcranial treatment using the AMO-ATOS-E apparatus for the correction of the reproductive system disorders in adolescent girls].

A combination of transcranial therapy and transcranial electrostimulation based on the use of the AMO-ATOS-E apparatus was applied to elucidate the hormonal status and to study lipid and carbohydrate metabolism in 84 girls of pubertal age. The correction of menstrual cycles in these patients brought about its normalization in 86.3% of the cases with the simultaneous reduction of their body weight by 9.26 +/- 4.28 kg during 3 months.

[Non pharmacotherapeutic correction of cerebral disturbances in children with diabetes mellitus type I].

A study of psychoemotional, autonomous and cognitive parameters revealed disturbances of the functional state of the central and autonomous nervous system in 75% of children with diabetes mellitus type I. The application of transcranial methods (transcranial electrostimulation (TES) and transcranial magnetic therapy (TcMT) demonstrated the high effectiveness in relation to the cerebral disturbances. The significant improvement was noted in 71.7% of children. The best clinical effect was achieved for the combination of TES and TcMT with primary effect of TcMT on the autonomous status and TES--on the psychoemotional status of patients. The combination of TES and TcMT stopped autonomous paroxysms in 70% of children, arrested phobic disorders in 60% and signs of depression in 60%. Positive changes in behavior and the increase of progress in studies were seen in 50% of patients. The improvement of EEG parameters, including the decrease of tau- and beta(1)-rhythms in frontal areas, the increase of alpha-rhythm activity, was found in 67.5% of cases. These findings suggest the increase of reserve potential of the central nervous system and the balance of excitement and inhibition processes in the cerebral cortex.

[Transcranial magnetic therapy in the treatment of psychoautonomous disturbances in children with diabetes mellitus type 1].

Results of a clinical-physiological study of 80 children with diabetes mellitus type 1 with psychoautonomous disturbances are presented. Forty patients of the main group received transcranial magnetic therapy (TcMT), 40 patients of the control group had placebo sessions of TcMT with magnetic power supply switched off. TcMT was applied using bitemporal method, running regime with modulation frequency 1-10 Hz. Patients received 10 sessions. Positive changes were found in the main group compared to the controls. In the main group, TcMT sessions allowed to normalize the autonomous status in 75% of children and to improve psychoemotional state in 55%. The correction of psychoemotional status of children changed their behavior towards diabetes, improved control and compensation of the disease.