transmedТрансляционная медицинаTranslational Medicine2311-44952410-5155Almazov National Medical Research Centre, Saint Petersburg, Russia10.18705/2311-4495-2014-0-1-62-66transmed-9Research ArticleЭНДОКРИНОЛОГИЯENDOCRINOLOGYСОЧЕТАНИЕ СИНДРОМА ЯКОБСЕН С РАНЕЕ НЕОПИСАННЫМИ ЭНДОКРИННЫМИ НАРУШЕНИЯМИ У ДЕВУШКИ 15 ЛЕТCOMBINATION OF JACOBSEN SYNDROME WITH UNDESCRIBED EARLY ENDOCRINE PATHOLOGY IN 15th YEAR OLD GIRLАртемьеваИрина ЮрьевнаArtem‘EvaIrina Y.kabani007@mail.ruПервунинаТатьяна МихайловнаPervuninaT. M.noemail@neicon.ruНикитинаИрина ЛеоровнаNikitinaI. L.noemail@neicon.ruФГБУ «Федеральный медицинский исследовательский центр им. В.А. Алмазова» Минздрава РоссииРоссияFederal Almazov Medical Research CentreRussian Federation201423122016016266Copyright © Артемьева И.Ю., Первунина Т.М., Никитина И.Л., 20162016Артемьева И.Ю., Первунина Т.М., Никитина И.Л.Artem‘Eva I.Y., Pervunina T.M., Nikitina I.L.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://transmed.almazovcentre.ru/jour/article/view/9

В статье представлен клинический случай ранее не описанных эндокринных нарушений: синдрома гиперандрогении с нарушением менструального цикла у девочки 15 лет с подтверждённой цитогенетически редкой хромосомной мутацией: делецией длинного плеча 11 хромосомы (кариотип 46, XX, del (11) (q23)) - синдромом Якобсен. Описаны клинические проявления, особенности течения заболевания у данного пациента, входящие в структуру синдрома Якобсен, а также алгоритм дифференциальной диагностики выявленной эндокринной патологии, тактика ведения и лечения, динамика состояния пациентки на фоне терапии за 2-х летний период наблюдения.

Authors represent a clinical case of endocrine disruptions: syndrome of hyperandrogenism accompanied disorder of a menstrual cycle in a 15 year-old-girl with proven cytogenetically rare chromosome mutation: deletion of a long arm 11 chromosome (karyotype 46, XX, del(11)(q23)) called Jacobsen syndrome. These endocrinologycal disorders were not described early in scientific literature.

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