Early diagnosis and management of patients with gender formation disorders

Disorders of sex formation are congenital conditions characterized by a mismatch between chromosomal, gonadal and anatomical sex. Currently, genetic factors affecting the development of sex during gonad differentiation, biosynthesis and the action of sex hormones have been identified. The incidence of the disease is 1 case per 4,500—5,000 newborns, for this reason, every pediatrician will face the problem of managing a newborn with atypical genitalia. The improvement of prenatal diagnostic methods, in particular, the use of non-invasive prenatal testing, allows the identification of genetic mutations of the Y chromosome as early as 7 weeks of pregnancy. This work reflects the etiological structure of disorders of sex formation — genetic mutations, diagnostic and therapeutic features of the management of patients with impaired sex formation are noted.

The aim of the work is to collect and summarize modern scientific data on gender formation disorders with the identification of the main causes of development, methods of diagnosis and therapy of the disease in different countries.

Materials and methods: the analysis of modern domestic and foreign literature on the topic of gender formation disorders in the period from 2016 to 2024 was carried out.

Results: the modern classification of disorders of sex formation, the main syndromes and diseases, clinical symptoms, and current diagnostic methods are presented. Approaches to therapy vary from country to country, which will allow domestic specialists to apply the most appropriate treatment.

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