ppharmПедиатрическая фармакологияPediatric pharmacology1727-57762500-3089Издательство «ПедиатрЪ»10.15690/pf.v21i2.2721ppharm-2438Research ArticleОБЗОР ЛИТЕРАТУРЫREVIEWПреждевременная недостаточность яичников у пациенток с галактоземиейPremature ovarian insufficiency in patients with galactosemiaКараченцоваИ. В.KarachentsovaIrina V.

Караченцова Ирина Васильевна, кандидат медицинских наук, доцент кафедры акушерства и гинекологии им. Г.М. Савельевой, главный внештатный специалист-гинеколог детского и юношеского возраста Департамента здравоохранения города Москвы

 117997, Москва, ул. Островитянова, д. 1, стр. 7

тел.: +7 (925) 505-31-04

MD, PhD

1, Ostrovityanova Str., building 7, Moscow, 117997

5053104@list.ruhttps://orcid.org/0000-0002-4540-6341СибирскаяЕ. В.SibirskayaElena V.

Сибирская Елена Викторовна, д.м.н., профессор

Москва

MD, PhD, Professor

Moscow

elsibirskaya@yandex.ruhttps://orcid.org/0009-0004-7118-4270ХайруллинаА. А.KhairullinaAdelina A.

Хайруллина Аделина Артуровна 

Москва

MD

Moscow

kh_adelina@mail.ruРНИМУ им. Н.И. ПироговаРоссияN.I. Pirogov Russian National Research Medical UniversityRussian FederationРНИМУ им. Н.И. Пирогова; Центр охраны репродуктивного здоровья подростков Московской области; РДКБ РНИМУ им. Н.И. Пирогова; МГМСУ им. А.И. ЕвдокимоваРоссияN.I. Pirogov Russian National Research Medical University; Center for Adolescent Reproductive Health protection in the Moscow Region; Russian Children’s Clinical Hospital of N.I. Pirogov Russian National Research Medical University; A.I. Evdokimov Moscow State University of Medicine and DentistryRussian Federation202411052024212119125Copyright © Караченцова И.В., Сибирская Е.В., Хайруллина А.А., 20242024Караченцова И.В., Сибирская Е.В., Хайруллина А.А.Karachentsova I.V., Sibirskaya E.V., Khairullina 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://www.pedpharma.ru/jour/article/view/2438Обоснование

Обоснование. Галактоземия — это врожденное нарушение углеводного обмена, вызванное дефектом любого из ферментов метаболизма галактозы. Одним из долгосрочных осложнений является преждевременная недостаточность яичников (ПНЯ), чаще встречающаяся при наличии у пациентов мутации c.563A>G (Q188R) в гомозиготном состоянии в гене галактозо-1-фосфатуридилилтрансферазы (GALT). При этом показатели фертильности могут быть выше у пациенток с ПНЯ, вызванной классической галактоземией (КГ), по сравнению с другими причинами ПНЯ, что затрудняет решение вопроса о необходимости применения методов сохранения фертильности для данной группы пациенток в препубертатном периоде.

Описание клинического случая. В данной работе представлено описание двух клинических наблюдений пациенток с КГ, у которых был выявлен гипергонадотропный гипогонадизм. Пациентке А. в возрасте 11 лет была инициирована заместительная гормональная терапия (ЗГТ), и по результатам остеоденситометрии снижения минеральной плотности костной ткани в настоящее время не отмечается. У пациентки С. в возрасте 14 лет перед началом ЗГТ яичники без выраженного фолликулярного аппарата, выявлены остеопения и остеопороз. Рассматривается вопрос о необходимости и сроках применения методов сохранения фертильности.

Заключение

Заключение. Пациенткам с КГ рекомендовано контролировать показатели гормонального профиля для своевременного назначения ЗГТ. Следует рассматривать криоконсервацию ткани яичников как один из вариантов сохранения фертильности у пациенток с КГ, принимая во внимание, что у некоторых из них сохраняется возможность самопроизвольной беременности, несмотря на ПНЯ.

Background. Galactosemia is a congenital disorder of carbohydrate metabolism caused by a defect in any of the enzymes of galactose metabolism. One of the long-term complications is premature ovarian insufficiency (POI), which is more common in patients with the c.563A>G (Q188R) mutation in the homozygous state in the galactose-1-phosphate uridylyltransferase (GALT) gene. At the same time, fertility factors may be higher in patients with POI caused by classical galactosemia (CG) compared with other causes of POI, which makes it difficult to resolve the issue of the need to use fertility preservation methods for this group of patients in the prepubescent period. Case report. This article describes two clinical observations of patients with CG who were diagnosed with hypergonadotropic hypogonadism. Patient A. was initiated hormone replacement therapy (HRT) at the age of 11, and according to the results of osteodensitometry, there is currently no decrease in bone mineral density. In patient C. at the age of 14, before the start of HRT, ovaries without pronounced follicular apparatus, osteopenia and osteoporosis were detected. The issue of the necessity and timing of the use of fertility preservation methods is being considered. Conclusion. Patients with CG are recommended to monitor hormonal profile indicators for timely administration of HRT. Cryopreservation of ovarian tissue should be considered as one of the options for maintaining fertility in patients with CG, taking into account that some of them still have the possibility of spontaneous pregnancy, despite the POI.

классическая галактоземияклинический случайповреждение гонадпреждевременная яичниковая недостаточностьбесплодиесохранение фертильностикриоконсервация ткани яичниковclassical galactosemiacase reportgonadal damagepremature ovarian insufficiencyinfertilitypreservation of fertilitycryopreservation of ovarian tissueОтсутствует.Not specified.ReferencesHaskovic M, Coelho AI, Bierau J, et al. Pathophysiology and targets for treatment in hereditary galactosemia: A systematic review of animal and cellular models. J Inherit Metab Dis. 2020;43(3):392– 408. doi: https://doi.org/10.1002/jimd.12202Haskovic M, Coelho AI, Bierau J, et al. Pathophysiology and targets for treatment in hereditary galactosemia: A systematic review of animal and cellular models. J Inherit Metab Dis. 2020;43(3):392– 408. doi: https://doi.org/10.1002/jimd.12202Flechtner I, Viaud M, Kariyawasam D, et al. Puberty and fertility in classic galactosemia. 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The authors declare that there are no conflicts of interest present.