ometendoОжирение и метаболизмObesity and metabolism2071-87132306-5524Endocrinology Research Centre10.14341/omet13024ometendo-13024Research ArticleКЛИНИЧЕСКИЕ СЛУЧАИCASE REPORTSСиндром тестикулярной феминизации: превентивная гонадэктомия, «за» и «против»Androgen insensitivity syndrome: preventive gonadectomy, pros and conshttps://orcid.org/0000-0003-2283-8958СтаростинаЕ. А.StarostinaE. A.

Старостина Евгения Александровна - к.м.н.

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

Evgenia A. Starostina - MD, PhD.

11 Dm.Ulyanova street, 117036 Moscow

colpakova.ev@mail.ruhttps://orcid.org/0009-0001-6204-4231ФролковаН. В.FrolkovaN. V.

Фролкова Надежда Викторовна.

Москва

Nadezhda V. Frolkova – MD.

Moscow

nadya.frolkova@mail.ruhttps://orcid.org/0009-0004-4991-9963СеидоваС. М.SeidovaS. M.

Сеидова Сеидбике Мирсамедовна.

Москва

Seidbike M. Seidova - MD.

Moscow

ssseibi@icloud.comhttps://orcid.org/0000-0001-9119-2447ПржиялковскаяЕ. Г.PrzhiyalkovskayaE. G.

Пржиялковская Елена Георгиевна - к.м.н.

Москва

Elena G. Przhiyalkovskaya - MD, PhD.

Moscow

przhiyalkovskaya.elena@gmail.comhttps://orcid.org/0000-0001-6388-1544ПлатоноваН. М.PlatonovaN. M.

Платонова Надежда Михайловна - д.м.н.

Москва

Nadezhda M. Platonova - MD, PhD.

Moscow

doc-platonova@inbox.ruhttps://orcid.org/0000-0002-8520-8702ТрошинаЕ. А.TroshinaE. A.

Трошина Екатерина Анатольевна - д.м.н., проф.

Москва

Ekaterina A. Troshina - MD, PhD, Professor.

Moscow

troshina@inbox.ruНациональный медицинский исследовательский центр эндокринологииРоссияEndocrinology Research CentreRussian Federation2024060320242118591Copyright © Старостина Е.А., Фролкова Н.В., Сеидова С.М., Пржиялковская Е.Г., Платонова Н.М., Трошина Е.А., 20242024Старостина Е.А., Фролкова Н.В., Сеидова С.М., Пржиялковская Е.Г., Платонова Н.М., Трошина Е.А.Starostina E.A., Frolkova N.V., Seidova S.M., Przhiyalkovskaya E.G., Platonova N.M., Troshina E.A.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.omet-endojournals.ru/jour/article/view/13024

Синдром тестикулярной феминизации (СТФ) представляет собой генетическое расстройство, характеризующееся полной или частичной нечувствительностью к андрогенам у индивидуумов с генотипом 46XY. СТФ также является наиболее частой причиной нарушений половой дифференциации у пациентов с кариотипом 46XY. Данное заболевание обусловлено дефектом гена рецептора к андрогенам (AR), что приводит к нарушению нормального развития мужских половых органов, формирования мужских вторичных половых признаков и проявлению фенотипических особенностей, характерных для женского пола.

Одним из важных вопросов, связанных с лечением СТФ, является необходимость превентивной гонадэктомии. Однако целесообразность профилактического удаления гонад до сих пор остается предметом дискуссий. В данной статье представлен клинический случай женщины 37 лет с полной формой СТФ. Несмотря на рекомендацию проведения гонадэктомии, основанную на подозрительных МР-характеристиках гонад, пациентка приняла решение отказаться от хирургического вмешательства, оправдывая свой выбор положительным влиянием гормональной активности гонад на ее внешний облик и физические характеристики. Этот клинический случай подчеркивает сложность принятия решения в лечении СТФ, где потребности и предпочтения пациента могут играть важную роль, несмотря на потенциальные риски и рекомендации медицинских специалистов.

Androgen insensitivity syndrome is a genetic disorder characterized by complete or partial androgen insensitivity in individuals with a 46XY genotype. It is also the most common cause of disorders of sexual differentiation in patients with a 46XY karyotype. This condition is caused by a defect in the androgen receptor gene (AR), leading to abnormal development of male genitalia, impaired formation of male secondary sexual characteristics, and phenotypic features resembling the female sex.

One of the important aspects related to the management of androgen insensitivity syndrome is the necessity of preventive gonadectomy. However, the rationale for prophylactic removal of gonads remains a subject of debate. This article presents a clinical case of a 37-year-old woman with complete androgen insensitivity syndrome who, despite recommendations for gonadectomy based on suspicious MRI characteristics of the gonads, made the decision to decline surgical intervention, justifying her choice by the positive impact of gonadal hormonal activity on her external appearance and physical characteristics. This clinical case highlights the complexity of decision-making in the management of androgen insensitivity syndrome, where patient preferences and needs may play a significant role, despite potential risks and concerns surrounding the preservation of gonads.

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