A5015632108- Adrenal Hormones and Disorders
- Sexual Differentiation and Disorders
- Hormonal Regulation and Hypertension
- Neuroblastoma Research and Treatments
- Diabetes and associated disorders
- Pituitary Gland Disorders and Treatments
- Growth Hormone and Insulin-like Growth Factors
- Hyperglycemia and glycemic control in critically ill and hospitalized patients
- Hormonal and reproductive studies
- Thyroid Disorders and Treatments
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Bone Tumor Diagnosis and Treatments
- Metabolism and Genetic Disorders
- Cancer, Hypoxia, and Metabolism
- Urological Disorders and Treatments
- Adrenal and Paraganglionic Tumors
- Metabolism, Diabetes, and Cancer
- Neuroendocrine Tumor Research Advances
- Hypothalamic control of reproductive hormones
- Tumors and Oncological Cases
- Diabetes Management and Research
- Genetic Syndromes and Imprinting
- Congenital heart defects research
- Sarcoma Diagnosis and Treatment
- Ovarian function and disorders
Endocrinology Research Center
2014-2024
Ministry of Health of the Russian Federation
2020
Russian Academy of Sciences
2015
National Medical Research Center for Hematology
2013
Patients with biallelic loss-of-function variants of AIRE suffer from autoimmune polyendocrine syndrome type-1 (APS-1) and produce a broad range autoantibodies (auto-Abs), including circulating auto-Abs neutralizing most type I interferons (IFNs). These were recently reported to account for at least 10% cases life-threatening COVID-19 pneumonia in the general population. We report 22 APS-1 patients 21 kindreds seven countries, aged between 8 48 yr infected SARS-CoV-2 since February 2020. The...
Despite being a classical growth disorder, pituitary gigantism has not been studied previously in standardized way. We performed retrospective, multicenter, international study to characterize large series of patients. included 208 patients (163 males; 78.4%) with hormone excess and current/previous abnormal velocity for age or final height >2 s.d. above country normal means. The median onset rapid was 13 years occurred significantly earlier females than adenomas were diagnosed males...
ContextAutoimmune polyendocrine syndrome type 1 (APS-1) is a rare monogenic autoimmune disease caused by mutations in the regulator (AIRE) gene and characterized chronic mucocutaneous candidiasis, hypoparathyroidism, primary adrenal insufficiency. Comprehensive characterizations of large patient cohorts are rare.
<i>Background:</i> Autoimmune polyglandular syndrome type 1 (APS-1) (OMIM 240300) is a rare autosomal recessive disorder associated with three major manifestations: chronic mucocutaneous candidiasis, hypoparathyroidism, and adrenal insufficiency. There are, however, multiple minor components of APS-1 that induce significant phenotype variability. Subsequently, the diagnosis during early stages often challenging. <i>Aim:</i> We aimed to provide clinical mutational data...
Clinical practice guidelines on Congenital Adrenal Hyperplasia (CAH) give a brief review of epidemiology, etiology and pathogenesis all disease causative steroidogenic defects. Recommendations neonatal screening management early-diagnosed CAH due 21-hydroxylase deficiency were given in details. We also included the algorithm for hormonal treatment patients different age. Prenatal preimplantation genetic diagnosis has been discussed.
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED; also known as autoimmune polyendocrine syndrome type 1) has a severe, unpredictable course. Autoimmunity and disease components may affect fertility predispose to maternal fetal complications, but pregnancy outcomes remain unknown.To assess course of clinical APECED manifestations during in women with APECED.A multicenter registry-based study including 5 national patient cohorts.321 females APECED.Number pregnancies,...
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive diseases characterized by defect in one the enzymes or transport proteins involved cortisol synthesis cortex. The most common form CAH, which occurs more than 90% cases, 21-hydroxylase enzyme deficiency. latter subdivided into nonclassical and classic (salt-losing virilizing) forms. prevalence forms deficiency ranges from 1: 14,000 to 1:18,000 live births worldwide. According data neonatal screening Russian Federation,...
The precocious puberty is an urgent problem of pediatric endocrinology characterized by clinical and pathogenetic heterogeneity. appearance secondary sex characteristics before the age 8 years in girls 9 boys requires timely diagnosis appointment pathogenetically justified treatment order to achieve target indicators final growth prevent social deprivation. developed guidelines are main working tool practitioner. They briefly structurally present information about epidemiology modern...
A 26-year-old female with the classic major and minor components of autoimmune polyglandular syndrome type 1 was diagnosed as having pure red cell aplasia. Treatment 1.5 g/d mycofenolate mofetil for 3 months failed to restore erythroid production. cyclosporine produced a good partial response but led renal toxicity therefore substituted cyclophosphamide, which had effect lasted 18 months. The relapse anemia not observed during 6-month follow-up period after cessation treatment.
Carney complex is a rare hereditary syndrome characterized by an autosomal-dominant mode of inheritance and associated with multiple neoplasias affecting endocrine organs. The typical manifestations this include pigmented micronodular adrenal dysplasia, lentiginosis, heart skin myxomas, giant cell sertoliomas, some other neoplasias. To date, few hundred patients pathology have been described worldwide. A review the available data about presented.
Congenital hyperinsulinism (CHI) is a most frequent cause of persistent hypoglycemia in the children during first year life. This pathology biochemically characterized by inadequate secretion insulin beta-cells pancreas. highly heterogeneous condition terms clinical manifestations, histological features, and molecular-genetic defects underlying development this disorder. A total 9 genes are known to be involved pathogenesis CHI. The majority cases (40-60%) attributable KCNJ11 ABCC8 encoding...
The disorders of sex development (DSD) 46,XY may be caused by mutations in a number genes involved the gonadal differentiation. XY inversion can also due to disturbances at level mitogen-activated protein kinase (MAPK) 1 gene (MAP3K1) and MAPK-signaling pathway. During last decade, involvement MAPK pathway SRY up-regulation during formation male mammals has been demonstrated. role human determination is not fully understood. Probably, MAP3K1 are one genetic pathways controlling normal...
Adrenogenital syndrome is a group of pathological conditions with autosomal recessive inheritance underlain by the deficit one enzymes involved in cortisol biosynthesis. The first clinical reports patients adrenogenital date back to XIXth century. literature early XXth century offers comprehensive characteristics disease along attempts at its classification. progress biochemistry and pharmacology mid-XX provided knowledge for explanation nature development methods pathogenetically-grounded...
This study was designed to ascertain the role of anti-interferon (IFN)-ω and -α2 antibodies (AB) in diagnostics type 1 autoimmune polyglandular syndrome (APS-1) evaluate specificity sensitivity HEK-Blue cells method used detect these antibodies. The included 34 patients presenting with APS-1 21 focal alopecia. All 100% ehxhibited high titers anti IFN-ω antibodies; 97% them had IFN-a2 These were not found It is concluded that measurement IFN-α α2 use a highly specific sensitive for APS-1.
X-linked adrenoleukodystrophy (X-ALD) is a severe neurodegenerative metabolic disease with frequency 1:17,000 in newborn boys. Being major part of X-ALD an incidence 70-80% patients, adrenal insufficiency (AI) life-threatening condition without timely treatment. The possibility developing AI during the whole duration and absence any predictive factor for joining shows necessity studying patients to optimize current diagnostic treatment algorithms.
Primary glucocorticoid resistance (OMIM 615962) is a rare endocrinologic condition caused by of the human receptor (hGR) to glucocorticoids (GR) and characterised general or partial insensitivity target organs GK. Compensatory activation hypothalamic-pituitary-andrenal axis results in development various pathological conditions overstimulation adrenal glands. Clinical spectrum may range from asymptomatic cases severe mineralocorticoid and/or androgen excess. At present time, primary...
Введение. Синдром Клайнфельтера (СК) – аномалия половых хромосом, характеризующаяся высокой распространенностью в различных популяциях, гипергонадотропным гипогонадизмом и мужским бесплодием, выраженной клинической вариабельностью симптомов часто поздней диагностикой. Причины фенотипической вариабельности СК, том числе роль генетических, эпигенетических средовых факторов, до сих пор недостаточно изучены. Цель: исследование влияния CAG-полиморфизма гена андрогенового рецептора (AR)...
Neuroendocrine tumors (NET) of the thymus are rare, usually aggressive, and prone to metastatic lesion. Ectopic adrenocorticotropic hormone (ACTH) secretion in thymic NET (TNEN) is associated with poor prognosis. Most TNET express somatostatin receptors, it allows use receptor scintigraphy (SRS) SPECT/CT or PET/CT 68Ga-labeled peptides for diagnosis staging disease. Surgery (macroscopic-complete resection) mainstay treatment TNET. Now, there no unequivocal data adjuvant therapy its...
Abstract Context Pathogenic variants in the TBCE gene, encoding tubulin-specific chaperone E crucial for tubulin folding, are linked to three severe neurodevelopmental disorders: Hypoparathyroidism-retardation-dysmorphism (HRD) syndrome, Kenny-Caffey syndrome type 1, and progressive encephalopathy with amyotrophy optic atrophy. Objective We identified patients a novel, milder TBCE-associated phenotype aimed characterize it at clinical molecular levels. Materials Methods conducted splicing...
Syndrome of hyperandrogenism in women is one the commonest disease adult age. It associated with a high risk metabolic disturbances, cardiovascular disorders, and infertility. Taken together, these factors dictate necessity in-depth investigations this pathology. At present, both etiology pathogenesis syndrome remain obscure. As rule, its clinical manifestations become apparent at puberty. The present review summarizes data on development course female special reference to occurrence,...
The idiopathic form of premature sexual development (PSD) is the commonest variety among central forms PSD (accounting for 30 to 70% total). It occurs primarily in girls. prevalence hypothalamic hamartoma (HH) as a cause on whole lower, but it most frequently diagnosed children either sex under age 3 years with clinical manifestations true PSD. Diagnostics and treatment different constitute an appreciable part practical work pediatric endocrinologist. efficacy therapy luliberin analogs has...