Results of neonatal screening on adrenogenital syndrome in children in the RS (Ya) for 10 years

Abstract

The results of neonatal screening in the Republic of Sakha (Yakutia) (RS (Y)) and the endocrinology department of the Pediatric Center RB- 1-NTSM for ten years on congenital dysfunction of the adrenal cortex (syn. Adrenogenital syndrome) are presented in the article. Adrenogenital syndrome is a group of diseases with an autosomal recessive type of inheritance, which is based on a defect of one of the enzymes or transport proteins involved in the biosynthesis of cortisol in the adrenal cortex. Neonatal screening for adrenogenital syndrome is an effective method of early diagnosis and treatment of a disease that can prevent the development of disabling complications and death. Coverage of newborns with neonatal screening in the RS (Y) annually increases. With timely treatment of adrenogenital syndrome, the rates of physical development and puberty of the child are approaching the norm. The prevalence of adrenogenital syndrome in the RS (Y) is lower than in the Russian Federation and its regions: in the Ural Federal District, in the Siberian Federal District. The most frequent occurrence of adrenogenital syndrome is observed in Alaska residents, the lowest in China. All patients have a lossy form of the disease. Analysis of patients identified by neonatal screening did not determine significant differences in gender, place of residence. In girls, the diagnosis was made immediately after birth due to the presence of virile syndrome. A case of an incorrect determination of the sex in a girl at birth was described on the patient’s medical chart and was diagnosed with hypospadias. Substitution therapy for the majority was started up to 21 days. All patients receive replacement therapy with glucocorticoids and mineralocorticoids (Cortef, Cortineff) from the time of diagnosis in an individual dosage, depending on age. Acceleration of bone age is observed only in one child, in three, a decrease in the rate of growth and a lack of body weight. The organization of neonatal screening for adrenogenital syndrome in the RS (Y) allowed achieving a high percentage of the survey of newborns, reduction of the period of examination and early initiation of substitution therapy, prevention of disability of patients.