verezdoВестник репродуктивного здоровьяBulletin of Reproductive Health2075-65692310-421XEndocrinology Research Centre (Moscow)10.14341/brh12793verezdo-12806Research ArticleКЛИНИЧЕСКИЕ СЛУЧАИCASE REPORTSИзолированный гипогонадотропный гипогонадизм, обусловленный мутацией в гене WDR11: клиническое наблюдениеSavelyeva LV. Isolated hypogonadotropic hypogonadism caused by a mutation in the WDR11 gene: a clinical case reporthttps://orcid.org/0009-0001-0616-2444ИвановаД. В.IvanovaD. V.

Иванова Дарья Вячеславовна, клинический ординатор 

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

Daria V. Ivanova

 11 Dm.Ulyanova street, 117036 Moscow

dar.ivanova22@gmail.comhttps://orcid.org/0000-0003-1247-3481ЗвягинцеваА. Н.ZvyagintsevaA. N.

Звягинцева Анастасия Николаевна, клинический ординатор

Anastasia N. Zvyagintseva

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

Морозова Елена Валерьевна

Elena V. Morozova, MD

elenafedoseeva08@gmail.comhttps://orcid.org/0000-0002-6391-8551МотковаС. И.MotkovaS. I.

Моткова Светлана Игоревна, к.м.н.

Svetlana I. Motkova, MD, PhD

sveta--1989@yandex.ruhttps://orcid.org/0000-0002-2808-4846СавельеваЛ. В.SavelyevaL. V.

Савельева Лариса Викторовна, к.м.н. 

Larisa V. Savelyeva, MD, PhD

slv63@mail.ruГНЦ РФ ФГБУ «Национальный медицинский исследовательский центр эндокринологии им. академика И.И. Дедова»РоссияEndocrinology Research CentreRussian Federation202603082026524852Copyright © Иванова Д.В., Звягинцева А.Н., Морозова Е.В., Моткова С.И., Савельева Л.В., 20262026Иванова Д.В., Звягинцева А.Н., Морозова Е.В., Моткова С.И., Савельева Л.В.Ivanova D.V., Zvyagintseva A.N., Morozova E.V., Motkova S.I., Savelyeva 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/12806

Изолированный гипогонадотропный гипогонадизм представляет собой гетерогенную группу редких наследственных заболеваний, характеризующихся нарушением секреции гонадотропинов, что приводит к задержке или отсутствию полового созревания, снижению фертильности и бесплодию. В последние годы достигнут значительный прогресс в изучении молекулярно‑генетических механизмов развития гипогонадотропного гипогонадизма: идентифицировано более 40 генов‑кандидатов, среди которых особое значение имеет ген WD‑repeat containing protein 11 ( WDR11 ). Развитие методов генетической диагностики и совершенствование программ вспомогательных репродуктивных технологий (ВРТ) расширяют возможности персонализированной терапии у пациентов с гипогонадотропным гипогонадизмом. В настоящей работе описаны два клинических наблюдения пациентов из одной семьи с гипогонадотропным гипогонадизмом, обусловленным мутацией в гене WDR11 , имеющим различные клинические проявления и стратегию лечения.

Isolated hypogonadotropic hypogonadism is a heterogeneous group of rare hereditary disorders characterized by impaired gonadotropin secretion, leading to delayed or absent puberty, reduced fertility, and infertility. In recent years, significant progress has been achieved in understanding the molecular genetic mechanisms underlying hypogonadotropic hypogonadism: more than 40 candidate genes have been identified, among which the WD‑repeat containing protein 11 ( WDR11 ) gene plays a key role. Advances in genetic diagnostics and the improvement of assisted reproductive technology (ART) programs expand the possibilities for personalized therapy in patients with hypogonadotropic hypogonadism. This paper presents two clinical cases of patients from the same family with hypogonadotropic hypogonadism caused by a mutation in the WDR11 gene, demonstrating different clinical manifestations and treatment strategies.

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