КОМПЛЕКСНАЯ ХАРАКТЕРИСТИКА НАРУШЕНИЙ ПРИ СИНДРОМЕ ШЕРЕШЕВСКОГО-ТЕРНЕРА
Ключевые слова:
Синдром Шерешевского-Тернера, Х-хромосома, мозаицизм, кариотипАннотация
Синдром Шерешевского-Тернера - один из наиболее распространенных хромосомных аномалий, для которого характерно либо полное отсутствие одной хромосомы, либо наличие дефекта в одной из Х – хромосом. В результате хромосомных аномалий у девочек нарушается процесс созревания яичников, отмечается задержка или полное отсутствие полового созревания и как следствие, развитие бесплодия. В некоторых случаях (чаще при кариотипе 45,Х/ 46,ХY) может развиваться гонадобластома. В редких случаях у пациентов с Шерешевского-Тернера встречается спонтанный пубертат. Переход молодых женщин с СШТ от педиатрической ко взрослой помощи характеризуется высоким процентом отсева и неадекватным последующим наблюдением, что приводит к увеличению заболеваемости и смертности.
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