title: [Current aspects of the diagnosis and treatment in congenital dysfunction of the adrenal cortex in children].
abstract: The paper treats of current diagnostic criteria for congenital dysfunction of the adrenal cortex in children. They include investigation of HLA-antigens, identification of heterozygote and homozygote carriership, prenatal diagnosis of the disease, and the screening tests. The leading position in the disease diagnosis is assigned to its clinical manifestations, measurement of 17-hydroxyprogesterone and testosterone in blood serum together with excretion of 17-ketosteroids with urine. Emphasis is laid on the importance of early disease diagnosis and establishment of sex appurtenance, which is promoted by studies of sex chromatin, karyotype and ultrasonic scanning of the internal genitalia. The treatment policy for patients with congenital dysfunction of the adrenal cortex has been elaborated as have been its aspects: hormonal, surgical and psychotherapeutic. The treatment protocols using current hormonal drugs with changes in conventional time of their intake are described in detail. The long-term results of hormonal therapy are provided on the basis of large clinical material (over 500 patients with congenital dysfunction of the adrenal cortex were examined).
authors.forename: E S
authors.initials: ES
authors.lastname: Kuznetsova
mesh_terms: D015068:17-Ketosteroids / Q000652:urine; D019326:17-alpha-Hydroxyprogesterone; D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis / Q000628:therapy; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis; D006801:Humans; D006908:Hydroxyprogesterones / Q000097:blood; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013739:Testosterone / Q000097:blood
chemical_list: D015068:17-Ketosteroids; D006908:Hydroxyprogesterones; D013739:Testosterone; D019326:17-alpha-Hydroxyprogesterone
vernacular_title: Sovremennye aspekty diagnostiki i lecheniia vrozhdennoĭ disfunktsii kory nadpochechnikov u deteĭ.