ПРЕЖДЕВРЕМЕННОЕ ПОЛОВОЕ СОЗРЕВАНИЕ: МОЛЕКУЛЯРНАЯ ГЕНЕТИКА, СОВРЕМЕННЫЕ ПОДХОДЫ К ДИАГНОСТИКЕ И ЛЕЧЕНИЮ

Авторы

  • Халимова З.Ю.
  • Уралова Д.У.
  • Абдуллаева А.У.
  • Холова Д.Ш.
  • Рахимова Г.Н.
  • Сулейманова Ф.Н.

Ключевые слова:

преждевременное половое созревание, центральное преждевременное половое развитие (ЦППР), периферическое преждевременное половое развитие (ПППР), идиопатическое, KISS1, KISS1R, MKRN3, DLK1, врожденная дисфункция коры надпочечников, синдром Мак-Кьюна-Олбрайта

Аннотация

Статья посвящена основным молекулярно-генетическим механизмам и новым подходам к диагностике и лечению центрального преждевременного полового созревания. Преждевременное половое созревание — это появление вторичных половых признаков до 8 лет у девочек и до 9 лет у мальчиков. Распространенность сильно варьируется в зависимости от исследования. Обычно считается, что заболеваемость составляет 1 на 5000-10000 детей, но в некоторых странах мира наблюдается рост заболеваемости, включая США, Испанию, Францию, Данию, Корею и Китай с 1990 года. Сложные взаимодействия с генетическими факторами, факторами питания и окружающей среды играют решающую роль в определении сроков полового созревания. На сегодняшний день мутации в четырех генах (KISS1, KISS1R, MKRN3, DLK1) были подтверждены как причинные варианты, приводящие к центральному идиопатическому преждевременному половому созреванию.

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Опубликован

2023-09-03