Клинический случай нарушения формирования пола в практике детского гинеколога

Swyer disease (pure gonadal dysgenesis, complete gonadal dysgenesis) is a rare disorder of sex formation, which is characterized by congenital gonadal dysgenesis in the presence of karyotype 46,XY, female phenotype, non-ambivalent genitalia, the presence of Muller derivatives. The article presents a case of Swyer syndrome in a 17-year-old patient who was admitted with complaints of secondary sex features and menstruation. Subsequently she was described as woman with karyotype 46,XY, primary ovarian insufficiency. Following the gonadectomy, hormone replacement therapy with estrogens in combination with progestogens was prescribed, with normal formation of a female phenotype and the appearance of menstruation. The case described by us should once again draw attention to the problem of timely diagnosis of gender formation disorders.