lvrachЛечащий ВрачLechaschi Vrach1560-51752687-1181ООО «Издательство "Открытые системы"»10.26295/OS.2020.83.45.002lvrach-92Research ArticleСтатьиК вопросу о своевременной диагностике нарушений формирования полаOn the issue of timely diagnostics of gender formation disordersНикитинаИ. Л.NikitinaI. L.nikitina0901@gmail.comКудряшоваЕ. К.KudryashovaE. K.noemail@neicon.ruТодиеваА. М.TodievaA. M.noemail@neicon.ruБадрутдиновР. Т.BadrutdinovR. T.noemail@neicon.ruКостареваА. А.KostarevaA. A.noemail@neicon.ruФГБУ НМИЦ им. В. А. Алмазова МЗ РФRussian Federation202023062021031721Copyright © Никитина И.Л., Кудряшова Е.К., Тодиева А.М., Бадрутдинов Р.Т., Костарева А.А., 20212021Никитина И.Л., Кудряшова Е.К., Тодиева А.М., Бадрутдинов Р.Т., Костарева А.А.Nikitina I.L., Kudryashova E.K., Todieva A.M., Badrutdinov R.T., Kostareva A.A.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://journal.lvrach.ru/jour/article/view/92

Обсуждается важность ранней диагностики нарушений половой дифференцировки ребенка, описаны различные проявления данной патологии с целью включения их в спектр диагностического поиска. Приводится клиническое наблюдение двух пациентов с нарушением формирования пола с кариотипом 46ХУ, с идентифицированными мутациями в одном и том же гене стероидогенного фактора NR5A1, которым при рождении был установлен женский паспортный пол.

Importance of early diagnostics of gender differentiation disorders in children is discussed, different manifestations of this pathology are described so that they could be included in the spectrum of diagnostic search. We presented a clinical observation of two patients with gender formation disorders with karyotype 46ХУ, with identified mutations in the same gene of steroidogenic factor NR5A1, whom, on their birth, official female gender was given. 

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The authors declare that there are no conflicts of interest present.