verezdoВестник репродуктивного здоровьяBulletin of Reproductive Health2075-65692310-421XEndocrinology Research Centre (Moscow)10.14341/brh12772verezdo-12772Research ArticleКЛИНИЧЕСКИЕ СЛУЧАИCASE REPORTSКлинический случай нарушения формирования пола, 46 ХУ, SRY+Clinical case of disorder of sex development, 46 XY, SRY+https://orcid.org/0000-0001-8733-3710АнкинаВ. Д.AnkinaV. D.

Анкина Влада Денисовна

117036, Москва, ул. Дм. Ульянова, д. 11

Vlada D. Ankina

11 Dm. Ulyanova street, 117036 Moscow

vlada.ankina@mail.ruhttps://orcid.org/0009-0009-1348-161XМорозоваЕ. В.MorozovaE. V.

Морозова Елена Валерьевна

Москва

Elena V. Morozova – MD

Moscow

elenafedoseeva08@gmail.comВеснинаА. Ф.VesninaA. F.

Веснина Анна Федоровна - к.м.н.

Москва

Anna F. Vesnina - PhD.

Moscow

annvesnina@yandex.ruhttps://orcid.org/0000-0002-2808-4846СавельеваЛ. В.Savel’evaL. V.

Савельева Лариса Викторовна - к.м.н.

Москва

Larisa V. Savelyeva - MD, PhD.

Moscow

slv63@mail.ruГНЦ ФГБУ «НМИЦ эндокринологии имени академика И.И. Дедова» Минздрава РоссииРоссияEndocrinology Research CentreRussian Federation202505112025434752Copyright © Анкина В.Д., Морозова Е.В., Веснина А.Ф., Савельева Л.В., 20252025Анкина В.Д., Морозова Е.В., Веснина А.Ф., Савельева Л.В.Ankina V.D., Morozova E.V., Vesnina A.F., Savel’eva L.V.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.vrz-endojournals.ru/jour/article/view/12772

Люди, рожденные с нарушениями формирования пола (далее — НФП), представляют особую когорту пациентов, поскольку их наблюдение и лечение требует содружественной работы эндокринологов, гинекологов, хирургов и психологов. Так, проведение гонадэктомии в более позднем возрасте ассоциировано с высоким риском развития герминогенных опухолей, а несвоевременно инициированная заместительная гормональная терапия определяет некорректное развитие вторичных половых признаков и параметров роста. Перед специалистами стоит цель помочь таким пациентам реализовать репродуктивные планы и обеспечить полноценную жизнь в социуме. Правильная тактика ведения определяется во многом уровнем информированности пациента и его родителей. Таким образом, одной из важнейших обязанностей врачей является предоставление им актуальных данных об этих состояниях.

Нами представлен клинический случай нарушения формирования пола, с кариотипом 46 XY, положительным геном SRY, который отражает значимость концепций международного консенсуса в ведении пациентов с данным состоянием.

People, who born with disorders/differences of sex development (hereinafter -DSD) represent a special cohort of patients, because their observation and treatment requires the cooperative work of endocrinologists, gynecologists, surgeons and psychologists. The execution of gonadectomy at a later age is associated with a high risk of development of herminous tumors, and untimely initiated hormone replacement therapy determines incorrect development of secondary sexual characteristics and growth parameters. The goal of specialists is to help such patients realize their reproductive plans and ensure a full life in society. The right management tactics are largely determined by the level of awareness of the patient and his/her parents. Thus, one of the most important duties of doctors is to provide them with up-to-date data on these conditions.

We present a clinical case of disorders/differences of sex development with karyotype 46 XY, positive SRY gene, which reflects the importance of concepts of international consensus in patients with this condition.

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