problendoПроблемы ЭндокринологииProblems of Endocrinology0375-96602308-1430Endocrinology Research Centre10.14341/probl12446problendo-12446Research ArticleДетская эндокринологияPediatric EndocrinologyКлинический случай синдрома избытка ароматазы, связанный с дупликацией 15Q21.2A clinical case of aromatase excess syndrome associated with 15Q21.2 duplicationhttps://orcid.org/0000-0002-2974-667XКасьяноваЮлия ВадимовнаKasyanovaYulia V.

врач-ординатор института детской эндокринологии

MD

yulia839@yandex.ruhttps://orcid.org/0000-0003-0180-904XЧернякИрина ЮрьевнаChernyakIrina Yu.

к.м.н.

MD,PhD

ipsen@mail.ruhttps://orcid.org/0000-0001-5321-5580ВоронинаИнобатхон КадыровнаVoroninaInobatchon K.

врач-детский эндокринолог

MD

inna.voronina.1961@mail.ruhttps://orcid.org/0000-0002-2000-7694КалинченкоНаталья ЮрьевнаKalinchenkoNatalia Yu.

кандидат медицинских наук

MD, PhD

kalinnat@rambler.ruНациональный медицинский исследовательский центр эндокринологииРоссияEndocrinology Research CenterRussian FederationДетская краевая клиническая больницаРоссияKrasnodar Regional Child HospitalRussian Federation2020300820206627984Copyright © Касьянова Ю.В., Черняк И.Ю., Воронина И.К., Калинченко Н.Ю., 20202020Касьянова Ю.В., Черняк И.Ю., Воронина И.К., Калинченко Н.Ю.Kasyanova Y.V., Chernyak I.Y., Voronina I.K., Kalinchenko N.Y.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.probl-endojournals.ru/jour/article/view/12446

Синдром избытка ароматазы (СИА) — редкое аутосомно-доминантное заболевание, обусловленное повышенной внегландулярной конверсией андрогенов в эстрогены. Особенностью данного синдрома является развитие ранней гонадотропиннезависимой гиперэстрогенемии, клинически проявляющейся допубертатной гинекомастией у мальчиков и преждевременным изосексуальным развитием у девочек. В постпубертатном периоде у всех пациентов отмечается низкорослость вследствие раннего закрытия зон роста под влиянием эстрогенов, у женщин наблюдаются макромастия, гиперпластические процессы эндометрия и позднее наступление менопаузы. У мужчин нередко отмечается умеренное снижение уровня гонадотропинов, приводящее к вторичному гипогонадизму. СИА у детей можно заподозрить на основании сочетания клинической картины, характерной для избытка эстрогенов и повышенного уровня эстрогенов при низких уровнях гонадотропинов после исключения эстрогенпродуцирующей опухоли. Окончательная верификация диагноза требует проведения молекулярно-генетического исследования. Частота встречаемости СИА до настоящего времени не установлена в связи с редкостью заболевания и сложностью его молекулярно-генетической верификации. Однако своевременная диагностика и начало терапии данного состояния могут влиять на становление репродуктивных функций, психосоциальную адаптацию, конечный рост и гормональный статус во взрослом периоде.

В данной статье нами описан клинический случай 10-летнего пациента с поздней диагностикой синдрома избыточной активности ароматазы, вызванного микродупликацией 15q21.2 гена CYP19A1, и проведен краткий обзор литературы.

Aromatase excess syndrome (SIA) is a rare autosomal dominant disease caused by increased extraglandular conversion of androgens to estrogens. SIA is characterizedby early gonadotropin-independent hyperestrogenemia, causing pre-pubertal gynecomastia in boys and premature isosexual development in girls. Adults patients have short stature, due to the early closure of epiphyses because of hyperestrogenemia. Women usually have macromastia, endometrial hyperplastic processes and the late onset of menopause. In men, there is a moderate decrease of gonadotropins, leading to secondary hypogonadism. SIA in children can be suspected on a combination of the clinical picture of an excess of estrogens, increased levels of estrogens with low levels of gonadotropins after the exclusion of an estrogen-producing tumor. The frequency of occurrence of SIA is unknown, due to the rarity of the disease and the complexity of its molecular and genetic verification. In this article, we describe a clinical case of a 10-year-old patient with a late diagnosis of aromatase overactivity syndrome caused by a 15q21.2 microduplication of the CYP19A1 gene, and conduct a brief review of the literature.

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