ppharmПедиатрическая фармакологияPediatric pharmacology1727-57762500-3089Издательство «ПедиатрЪ»10.15690/pf.v23i4.3071ppharm-2875Research ArticleКРАТКИЕ СООБЩЕНИЯSHORT REPORTЭтические аспекты ведения детей с врожденной дисфункцией коры надпочечниковEthical Aspects of Congenital Adrenal hyperplasiahttps://orcid.org/0000-0002-4271-543XКаширскаяЕ. И.KashirskayaElena I.

Каширская Елена Игоревна - д.м.н., заведующая кафедрой госпитальной педиатрии и неонатологии.

414000, Астрахань, ул. Бакинская, д. 121, тел.: +7 (960) 861-13-75

МD, PhD.

121, Bakinskaya Str., Astrakhan, 414000, +7 (960) 861-13-75

kmn2001@mail.ruhttps://orcid.org/0000-0003-2581-0408АнтоноваА. А.AntonovaAlyona A.

Антонова Алена Анатольевна - к.м.н.

Астрахань

МD, PhD.

Astrakhan

https://orcid.org/0009-0005-4579-171XМакухинаЛ. П.MakukhinaLiya P.

Макухина Лия Петровна

Астрахань

MD.

Astrakhan

makuhina.liya@mail.ruhttps://orcid.org/0000-0001-6410-1941ДемидоваР. А.DemidovaRimma A.

Демидова Римма Александровна

Астрахань

Astrakhan

rimmademidova.rad@gmail.comАстраханский государственный медицинский университетРоссияAstrakhan State Medical UniversityRussian FederationАстраханский государственный медицинский университетРоссияAstrakhanRussian FederationОбластная детская клиническая больница им. Н.Н. СилищевойРоссияN.N. Silishcheva Regional Children’s Clinical HospitalRussian Federation202609102026234490497Copyright © Каширская Е.И., Антонова А.А., Макухина Л.П., Демидова Р.А., 20262026Каширская Е.И., Антонова А.А., Макухина Л.П., Демидова Р.А.Kashirskaya E.I., Antonova A.A., Makukhina L.P., Demidova R.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/2875Обоснование

Обоснование. Индивидуальная вариабельность в человеческой популяции детерминирована полиморфизмом генетического материала и влиянием факторов внешней среды. Патологические изменения наследственных структур, такие как хромосомные аберрации или мутации генов, кодирующих ключевые белки, могут индуцировать нарушения морфофункциональной организации организма. Значительная часть наследственной патологии обусловлена дефектами ферментов, приводящими к дисметаболизму. Фенотипические проявления таких заболеваний носят комплексный характер, включая как видимые аномалии, так и клинически латентные дисфункции внутренних органов. Одним из таких нарушений является врожденная дисфункция коры надпочечников (ВДКН), называемая также адреногенитальным синдромом и врожденной гиперплазией коры надпочечников. ВДКН представляет собой редкое аутосомно-рецессивное нарушение стероидогенеза, обусловленное наследственным дефицитом ферментов. Патогенез заболевания заключается в снижении синтеза кортизола, что по принципу отрицательной обратной связи вызывает хроническую гиперсекрецию адренокортикотропного гормона (АКТГ). Персистирующая стимуляция АКТГ приводит к компенсаторной гиперплазии надпочечников и избыточному накоплению предшественников, шунтируемых в путь синтеза андрогенов. Описание клинического случая. Приводим собственное клиническое наблюдение ребенка с сольтеряющей формой ВДКН, сопровождающейся вирилизацией наружных половых органов. Рождение ребенка с атипичным строением наружных половых органов (интерсекс-вариацией), сопряженное с неопределенностью пола, как правило, становится серьезным психологическим стрессом для семьи. Необходимость пожизненной заместительной гормональной терапии и риск возникновения острых жизнеугрожающих состояний (надпочечниковых кризов) формируют стойкую тревогу у родителей пациентов.

Заключение

Заключение. Разъяснительная работа и психологическое сопровождение родителей пациентов должны стать важным терапевтическим аспектом, способствующим улучшению качества жизни ребенка и повышающим приверженность лечению.

Background

Background. Individual variability in the human population is determined by the polymorphism of genetic material and the influence of environmental factors. Pathological changes in hereditary structures, such as chromosomal aberrations or mutations in genes encoding key proteins, can induce disturbances in the morphofunctional organization of the body. A significant portion of hereditary pathology is caused by enzyme defects leading to dysmetabolism. The phenotypic manifestations of such diseases are complex, including both visible anomalies and clinically latent dysfunctions of internal organs. One such disorder is congenital adrenal hyperplasia (CAH), also known as adrenogenital syndrome and congenital adrenal cortex hyperplasia. CAH is a rare autosomal recessive disorder of steroidogenesis caused by hereditary enzyme deficiency. The pathogenesis of the disease consists in reduced cortisol synthesis, which, through negative feedback, causes chronic hypersecretion of adrenocorticotropic hormone (ACTH). Persistent ACTH stimulation leads to compensatory adrenal hyperplasia and excessive accumulation of precursors shunted into the androgen synthesis pathway.

Case Report

Case Report. We present our own clinical observation of a child with the salt-wasting form of CAH accompanied by virilization of the external genitalia. The birth of a child with atypical external genitalia (intersex variation), associated with sex uncertainty, typically becomes a serious psychological stress for the family. The need for lifelong hormone replacement therapy and the risk of acute life-threatening conditions (adrenal crises) create persistent anxiety in the parents of patients.

Conclusion

Conclusion. Educational work and psychological support for the parents of patients should become an important therapeutic aspect contributing to the improvement of the child’s quality of life and increasing adherence to treatment.

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