ABSTRACT
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.
Subject(s)
Adrenal Hyperplasia, Congenital , Adrenal Hyperplasia, Congenital/complications , Adrenal Hyperplasia, Congenital/diagnosis , Adrenal Hyperplasia, Congenital/genetics , Child, Preschool , Delayed Diagnosis/adverse effects , Humans , Hydrocortisone/therapeutic use , Mutation , Steroid 11-beta-Hydroxylase/geneticsABSTRACT
Participants of nuclear-powered submarine accident liquidation and special risk units' veterans participating in surface nuclear weapon tests as well as in liquidation of their consequences have been examined. It has been established that functional state of this category of people is difficult to interpret only in the context of radioactive irradiation effect or injuring stress factor exposure. This state is determined by a complex of psychotraumatic factors tending to become aggravated and characterizing by their individual significance and absolute or relative insolvability. In most representatives of this category the disease is manifested by psychopathologic syndrome of neurotic disorders (low spirits, emotional lability, asthenia, anxiety) and somatic disturbances as dysfunction of the cardiovascular, respiratory, digestive and other systems. The results obtained provide the pathogenetic substantiation of efficient ways and methods for rehabilitation of the special risk units' veterans. The data prove the necessity of appropriate correction of cardiovascular disorders in practically healthy servicemen residing under conditions of psychoemotional tension.
Subject(s)
Military Personnel/psychology , Occupational Diseases/etiology , Radioactive Hazard Release , Stress Disorders, Post-Traumatic/etiology , Stress, Psychological/etiology , Veterans/psychology , Adaptation, Psychological , Adult , Aged , Apoptosis , Electroencephalography , Glutathione/metabolism , Hemodynamics/physiology , Higher Nervous Activity/physiology , Humans , Lymphocytes/cytology , Lymphocytes/metabolism , Male , Middle Aged , Occupational Diseases/blood , Occupational Diseases/physiopathology , Occupational Diseases/psychology , Stress Disorders, Post-Traumatic/blood , Stress Disorders, Post-Traumatic/physiopathology , Stress, Psychological/blood , Stress, Psychological/physiopathologyABSTRACT
The researches of biological age and rates of aging of liquidators of the sequels to radiation accidents were carried out. The biological age (BA) index can serve as a characteristic of social-hygienic factors influence on state of health of the officers and veterans of special risk subdivisions, liquidators of the sequels to radiation accidents. Chronic diseases exert influence on the biological age and proper biological age (PBA) index, increase mean value of BA-PBA index, bring contribution into acceleration of human organism aging. A direct connection between increase of functional class of the BA and duration of service in the Navy and ships was revealed. It was ascertained that radiation influence was a factor that increased the BA and rates of aging of liquidators of the sequels to radiation accidents.
