problendoПроблемы ЭндокринологииProblems of Endocrinology0375-96602308-1430Endocrinology Research Centre10.14341/probl201662155-59problendo-7749Research ArticleКлинические случаиCase ReportsДефект стероидогенного фактора 1 (SF1) как причина нарушения формирования пола 46XY (первое описание в отечественной литературе)The first clinical presentation of disorders of sex development 46 XY due to mutation in Steroidogenic factor 1 (SF1) in Russian Literaturehttps://orcid.org/0000-0002-2000-7694КалинченкоНаталья ЮрьевнаKalinchenkoNatalia Yur'evna

к.м.н., н.с. института клинической эндокринологии

MD, PhD

kalinnat@rambler.ruАносоваТатьяна АлександровнаAnosovaTatiana Aleksandrovna

к.м.н., детский эндокринолог

MD, PhD

doc.ionova@gmail.comИоутсиВиталий АлексеевичIoutsiVitaliy Alekseevich

к.м.н., ст.н.с.

MD, PhD

vitalik_org@mail.ruТюльпаковАнатолий НиколаевичTiulpakovAnatoly Nikolaevich

д.м.н., зав. отд. наследственных эндокринопатий института детской эндокринологии

MD, PhD

ant@endocrincentr.ruФГБУ «Эндокринологический научный центр» Минздрава РоссииРоссияEndocrinology Research CentreRussian FederationГБУЗ «Детская городская поликлиника №125» ДЗМРоссияMoscow Pediatric clinic №125Russian Federation2016130120166215559Copyright © Калинченко Н.Ю., Аносова Т.А., Иоутси В.А., Тюльпаков А.Н., 20162016Калинченко Н.Ю., Аносова Т.А., Иоутси В.А., Тюльпаков А.Н.Kalinchenko N.Y., Anosova T.A., Ioutsi V.A., Tiulpakov A.N.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/7749

Стероидогенный фактор 1 (SF1/AdBP4/FTZF1, NR5A1) — фактор транскрипции, регулирующий процессы закладки и развития стероидогенных органов. Классический фенотип при дефектах фактора SF1, встречающийся при наличии гомозиготных и ряда гетерозиготных мутаций в гене NR5A1, представляет собой первичную надпочечниковую недостаточность в сочетании с дисгенезией гонад при кариотипе 46XY. Однако большинство случаев гетерозиготных мутаций в гене NR5A1 характеризуются нарушением половой дифференцировки без признаков надпочечниковой недостаточности. В данной публикации впервые в России представлено описание случая нарушения формирования пола 46ХY, обусловленного гетерозиготной мутацией в гене NR5A1. Методом молекулярно-генетического анализа была обнаружена ранее неизвестная мутация в лиганд-связывающем домене SF1 (c.951delC p.H317QfsX17). Данный клинический пример подчеркивает необходимость обследования мальчиков с тяжелыми формами гипоспадии на наличие мутаций в гене NR5A1.

Steroidogenic factor 1 (SF1/AdBP4/FTZF1, NR5A1) is a nuclear receptor transcription factor that plays a critical role in different processes of sex development. Homozygous mutations in SF1 result in adrenal failure and complete testicular disgenesis in 46,XY individuals. According to recent studies heterozygous mutations in SF1 are associated with milder phenotype: they are found in children with 46,XY disorders of sex development (DSD) but with apparently normal adrenal structure and function. Here we present for the first time in Russian literature a case of SF1 deficiency. Molecular genetic analysis of NR5A1 gene revealed a novel heterozygous mutation c.951delC p.H317QfsX17. This clinical case demonstrates the importance of molecular genetic studies in DSD 46,XY, especially severe forms.

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