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1.
Probl Endokrinol (Mosk) ; 70(1): 30-37, 2024 Feb 28.
Article in Russian | MEDLINE | ID: mdl-38433539

ABSTRACT

Primary glucocorticoid resistance (OMIM 615962) is a rare endocrinologic condition caused by resistance of the human glucocorticoid receptor (hGR) to glucocorticoids (GR) and characterised by general or partial insensitivity of target organs to GK. Compensatory activation of hypothalamic-pituitary-andrenal axis results in development of a various pathological conditions caused by overstimulation of adrenal glands. Clinical spectrum may range from asymptomatic cases to severe cases of mineralocorticoid and/or androgen excess. At present time, primary generalized glucocorticoid resistance has been exclusively associated with defects in the NR3C1 gene. Here, we present a case report of an adolescent patient with clinical presentation of glucocorticoid resistance confirmed by detailed endocrinologic evaluation but no confirmed mutations in the NR3C1 gene.


Subject(s)
Metabolism, Inborn Errors , Receptors, Glucocorticoid , Receptors, Glucocorticoid/deficiency , Adolescent , Humans , Receptors, Glucocorticoid/genetics , Glucocorticoids/therapeutic use , Adrenal Glands , Metabolism, Inborn Errors/genetics , Rare Diseases
2.
Dokl Biochem Biophys ; 509(1): 73-77, 2023 Apr.
Article in English | MEDLINE | ID: mdl-37340297

ABSTRACT

A comparative analysis of natural antibodies to ß-endorphin, angiotensin, dopamine, serotonin, parameters of the cardiovascular system and anxiety levels was carried out for 241 athletes of various qualifications and sports. The obtained indicators of the cardiovascular system were compared with reference values. A significant increase in the level of natural antibodies to angiotensin was established for all groups of athletes. In the case of dopamine, serotonin, these differences are associated with the qualification of the athlete, for ß-endorphin, differences in the level of the indicator depending on the sport were found. A group of individuals with high levels of situational and personal anxiety was found among highly qualified athletes. An increase in blood pressure in athletes of cyclic sports and martial arts is adaptive, and in athletes of speed-strength sports it leads to a change in the walls of the myocardium. As a result of the study, the possibility of a comprehensive determination of natural antibodies and functional indicators as diagnostic markers for assessing the state of the human cardiovascular system has been shown.


Subject(s)
Cardiovascular System , Dopamine , Humans , Serotonin , beta-Endorphin , Angiotensins
3.
Probl Endokrinol (Mosk) ; 67(5): 84-103, 2021 09 24.
Article in Russian | MEDLINE | ID: mdl-34766494

ABSTRACT

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.


Subject(s)
Puberty, Precocious , Child , Female , Humans , Male , Puberty , Puberty, Precocious/diagnosis , Puberty, Precocious/epidemiology , Puberty, Precocious/therapy
4.
Ter Arkh ; 92(10): 88-96, 2020 Nov 24.
Article in Russian | MEDLINE | ID: mdl-33346485

ABSTRACT

Vitiligo is a common polygenic autoimmune disease in which the foci of depigmentation are formed on the skin and/or mucous membranes as a result of the death of melanocytes. There are several hypotheses for the pathogenesis of the disease, the leading role among them is played the autoimmune hypothesis. This review summarizes the available literature data on the prevalence and structure of comorbid endocrine autoimmune pathology in vitiligo patients. In most studies conducted in Europe, America and Asia the prevalence of autoimmune thyroid diseases (including autoimmune thyroiditis and Graves disease), diabetes mellitus and autoimmune adrenal insufficiency was higher in vitiligo patients than in the general population. The results of some studies indicate a frequent association of vitiligo with autoimmune polyglandular syndromes. In the structure of comorbid pathology the highest prevalence was in autoimmune thyroid diseases. A number of studies have established a higher prevalence of autoimmune endocrine diseases in women, as well as in nonsegmental vitiligo patients and in cases of family history of vitiligo and/or other autoimmune diseases. In addition, it was shown that the prevalence of endocrine diseases increases with increasing area of depigmentation. The data obtained justify the advisability of conducting a timely examination of vitiligo patients with the aim of early detection of comorbid diseases and the appointment of appropriate treatment. Further studies are needed to investigate the effect of the identified associations on the course of vitiligo and comorbid endocrinopathies, as well as the effectiveness of therapy and the quality of life of patients.


Subject(s)
Autoimmune Diseases , Vitiligo , Autoimmune Diseases/epidemiology , Europe , Female , Humans , Prevalence , Quality of Life , Vitiligo/epidemiology
5.
Probl Endokrinol (Mosk) ; 66(6): 39-49, 2020 Dec 11.
Article in Russian | MEDLINE | ID: mdl-33481366

ABSTRACT

Cushing's disease (CD) is a multisystem disorder of a cortisol excess caused by ACTH -secreting pituitary tumor (corticotropinoma). CD in children is due to somatic or germline mutations with the late onset causing multiple endocrine tumors. If not treated, hypercortisolism leads to severe decrease in quality of life and life-threating conditions. The first-line treatment for CD is pituitary surgery, which might be followed by complications and relapse with necessity of additional surgery or initiations of second-line treatment. Recent studies of molecular basis of corticotropinoma development made it possible to employ medical therapy in CD. Understanding of corticotropinoma etiology and pathogenesis is an important part of education for pediatric endocrinologists since we need to keep in mind possibility of multisystem disorder in case of CD in children and because medical therapy might gain more important role for CD treatment in future.The most actual genetic aspects of corticotroph adenomas growth and the medical treatment opportunities are present in this review.


Subject(s)
ACTH-Secreting Pituitary Adenoma , Adenoma , Pituitary ACTH Hypersecretion , Child , Humans , Neoplasm Recurrence, Local , Pituitary ACTH Hypersecretion/genetics , Quality of Life
6.
Klin Med (Mosk) ; 93(8): 55-9, 2015.
Article in Russian | MEDLINE | ID: mdl-26669033

ABSTRACT

Autoimmune polyglandular syndrome is a primary autoimmune disorder affecting two or more peripheral endocrine glands and responsible for their incompetence. It is frequently combined with various organ-specific non-endocrine diseases. Patients with this pathology need life-long replacement therapy and dynamic observation by endocrinologists and other specialists to monitor the effectiveness of the treatment and detect new components of the disease. We report a variant of type 1 autoimmune polyglandular syndrome. Special emphasis is laid on the importance of succession of actions of endocrinologists and specialists in related medical disciplines dealing with children and adult patients.


Subject(s)
Autoimmunity , Glucocorticoids/therapeutic use , Hormone Replacement Therapy/methods , Immunosuppressive Agents/therapeutic use , Immunotherapy/methods , Polyendocrinopathies, Autoimmune/immunology , Adult , Follow-Up Studies , Humans , Male , Polyendocrinopathies, Autoimmune/therapy
7.
Zh Vopr Neirokhir Im N N Burdenko ; 76(5): 63-8; discussion 69, 2012.
Article in Russian | MEDLINE | ID: mdl-23230697

ABSTRACT

We present a case of 11-year old boy with Type 1 Autoimmune Polyglandular Syndrome and thyrotropin secreting pituitary adenoma, which was diagnosed by elevated TSH and thyroid hormones levels and MRI signs of pituitary tumor and without clinical symptoms of hyperthyroidism. He underwent partial resection of the tumor via transnasal approach and subsequent radiation therapy. Consequently 1 year after XRT patient developed growth hormone deficiency, 3.5 years later patient became euthyroid, and 5.5 years after treatment - hypothyroid. This is the first described case of coexistence of this 2 rare endocrine diseases in the same patient.


Subject(s)
Adenoma , Pituitary Neoplasms , Polyendocrinopathies, Autoimmune , Thyrotropin/metabolism , Adenoma/complications , Adenoma/diagnosis , Adenoma/metabolism , Adenoma/surgery , Child , Humans , Male , Pituitary Neoplasms/complications , Pituitary Neoplasms/diagnosis , Pituitary Neoplasms/metabolism , Pituitary Neoplasms/surgery , Polyendocrinopathies, Autoimmune/complications , Polyendocrinopathies, Autoimmune/diagnosis , Polyendocrinopathies, Autoimmune/metabolism , Polyendocrinopathies, Autoimmune/surgery
8.
Khirurgiia (Mosk) ; (9): 53-9, 2011.
Article in Russian | MEDLINE | ID: mdl-22413161

ABSTRACT

22 children with tumors or other surgical diseases of the adrenal glands were operated on laparoscopically. Children aged from 5 months to 17 years. Operation lengths varied from 45 to 190 minutes. There were no lethal outcomes, conversions and serious complications of the procedure. Authors consider the laparoscopic adrenalectomy to be the safe and widely appropriate method for the use in juvenile cathegory of patients.


Subject(s)
Adrenal Gland Diseases/surgery , Adrenalectomy/methods , Endoscopy/methods , Intraoperative Complications/prevention & control , Adolescent , Adrenal Gland Diseases/etiology , Adrenal Gland Diseases/pathology , Adrenal Gland Diseases/physiopathology , Adrenal Glands/pathology , Adrenal Glands/physiopathology , Adrenal Glands/surgery , Child , Child, Preschool , Female , Humans , Infant , Male , Postoperative Care/methods , Time Factors , Treatment Outcome
9.
Probl Endokrinol (Mosk) ; 55(2): 15-18, 2009 Apr 15.
Article in Russian | MEDLINE | ID: mdl-31569895

ABSTRACT

Congenital adrenal hypoplasia is a rare clinical variant of primary adrenal insufficiency. Two forms of this disease are known, one of which is inherited in an autosomal recessive manner (including IMAGe syndrome - a combination of adrenal hypoplasia with intrauterine growth retardation, metaphysical dysplasia and abnormal genital structure, OMIM 300290), and the other has X-linked nature of inheritance (DAX-1 gene defect). X-linked adrenal hypoplasia is relatively more common and studied in more detail.Congenital X-linked adrenal hypoplasia is manifested by a combination of primary adrenal insufficiency and hypogonadotropic hypogonadism and is caused by defects in the DAX-1 gene (measurement-sensitive sex reversal, adrenal hypoplasia congenital, critical region on the X chromosome, gene-1).

10.
Kardiologiia ; 44(9): 23-8, 2004.
Article in Russian | MEDLINE | ID: mdl-15477771

ABSTRACT

AIM: To assess antianginal and antiischemic effects of trimetazidine and its action on myocardial perfusion in patients with ischemic heart disease and stable angina. MATERIAL: Open trimetazidine was given for 3 months to 53 nitroglycerine and beta-blocker treated men aged 47-69 (mean age 60.2+/-0.85) years with ischemic heart disease and stable angina. Stenoses of 1-3 main coronary arteries were found at angiography in 37 of these patients. METHODS: Registration of frequency of anginal attacks and nitroglycerine consumption, treadmill exercise tests and 24-hour ECG monitoring, assessment of severity of myocardial perfusion defects by scintigraphy with (99m)Tc MIBI were used for elucidation of treatment efficacy. RESULTS: After 3 months number of anginal attacks per week decreased from 9.3+/-0.6 to 4.8+/-05% (-48%, p<0.001), weekly nitroglycerine consumption fell from 9.9+/-0.8 to 4.6+/-0.6 pills (-53%, p<0.001), time to ST-segment depression during exercise on treadmill increased from 6.4+/-0.4 to 7.7+/-0.5 min (+16.9%, p<0.001) and total work performed increased from 7.8+/-0.4 to 9.2+/-0.5 METS (+15.2%, p<0.001). According to 24-hour ECG monitoring numbers of episodes of painful and painless ischemia decreased from 4.1+/-0.9 to 1.9+/-0.7 (-56.3%, p<0.002) and their overall duration shortened from 24.3+/-7.0 to 10.6+/-3.9 min (+56.3%, p<0.02). Analysis of heart rate variability revealed significant augmentation of SDNN in 77.8% of patients (from 130.0+/-6.9 to 145+/-8.1, p<0.05). Severity and extent of myocardial perfusion defects decreased in 87.5% of patients by 24,2% (from 476.1+/-78.5, p<0.01) and 20.3% (from 19.7+/-2.4 to 15.7+/-2.0, p<0.01), respectively. CONCLUSION: The use of trimetazidine as complimentary therapy to nitrates and beta-blockers in patients was associated with additional antianginal and antiischemic effects and improvement of myocardial perfusion.


Subject(s)
Angina, Stable , Trimetazidine , Angina Pectoris , Angina, Stable/drug therapy , Coronary Artery Disease/drug therapy , Humans , Myocardial Ischemia , Vasodilator Agents
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