problendoПроблемы ЭндокринологииProblems of Endocrinology0375-96602308-1430Endocrinology Research Centre10.14341/probl13593problendo-13593Research ArticleРедакционная статьяEditorialМолекулярная генетика в детской эндокринологии: 35 лет исследованийMolecular genetics in pediatric endocrinology: 35 years of researchhttps://orcid.org/0000-0002-5507-4627ПетерковаВ. А.PeterkovaV. A.

Петеркова Валентина Александровна, д.м.н., профессор, академик РАН

Москва

Valentina A. Peterkova, PhD, professor, academician of RAS

Moscow

peterkovava@hotmail.comhttps://orcid.org/0000-0001-9621-5732БезлепкинаО. Б.BezlepkinaO. B.

Безлепкина Ольга Борисовна, д.м.н., профессор

Москва

Olga B. Bezlepkina, MD, PhD, Professor

Moscow

olga.bezlepkina@endocrincentr.ruhttps://orcid.org/0000-0003-3396-8678ПанкратоваМ. С.PankratovaM. S.

Панкратова Мария Станиславовна, к.м.н.

Москва

Maria S. Pankratova, MD, PhD

Moscow

ms_pankratova@mail.ruhttps://orcid.org/0000-0003-4915-1267ЧугуновИ. С.ChugunovI. S.

Чугунов Игорь Сергеевич, к.м.н.

Москва

Igor S. Chugunov, MD, PhD

Moscow

chugunovigor@gmail.comhttps://orcid.org/0000-0002-4316-8546ЛаптевД. Н.LaptevD. N.

Лаптев Дмитрий Никитич, д.м.н.

Москва

Dmitry N. Laptev, MD, PhD

Moscow

laptevdn@ya.ruhttps://orcid.org/0000-0001-6429-7198НагаеваЕ. В.NagaevaE. V.

Нагаева Елена Витальевна, д.м.н.

Москва

Elena V. Nagaeva, MD, PhD

Moscow

nagaeva.elena@endocrincentr.ruhttps://orcid.org/0000-0002-2604-1703ШиряеваТ. Ю.ShiryaevaT. U.

Ширяева Татьяна Юрьевна, к.м.н.

Москва

Tatiana U. Shiryaeva

Moscow

Shiryaeva.Tatyana@endocrincentr.ruhttps://orcid.org/0000-0001-7736-5372КолодкинаА. А.KolodkinaA. A.

Колодкина Анна Александровна, к.м.н.

Москва

Anna A. Kolodkina, MD, PhD

Moscow

anna_kolodkina@mail.ruhttps://orcid.org/0000-0002-5650-1440СозаеваЛ. С.SozaevaL. S.

Созаева Лейла Салиховна, к.м.н. 

Москва

Leila S. Sozaeva, PhD

Moscow

leila.sozaeva@gmail.comhttps://orcid.org/0000-0001-7821-3979ТитовичЕ. В.TitovichE. V.

Титович Елена Витальевна, к.м.н.

Москва

Researcher ID: AAO-2567-2020

Scopus Author ID: 6507024916

Elena V. Titovich, MD, PhD

Moscow

lenatitovich@mail.ruhttps://orcid.org/0000-0003-3127-5974БолмасоваА. В.BolmasovaA. V.

Болмасова Анна Викторовна, к.м.н.

Москва

Anna V. Bolmasova

Moscow

anna_bolmasova@mail.ruhttps://orcid.org/0000-0003-4950-3920КураеваТ. Л.KuraevaT. L.

Кураева Тамара Леонидовна, д.м.н., профессор

Москва

Tamara L. Kuraeva, MD, PhD, Professor

Moscow

diabetkuraeva@mail.ruНациональный медицинский исследовательский центр эндокринологииРоссияEndocrinology Research CentreRussian Federation202520052025712413Copyright © Петеркова В.А., Безлепкина О.Б., Панкратова М.С., Чугунов И.С., Лаптев Д.Н., Нагаева Е.В., Ширяева Т.Ю., Колодкина А.А., Созаева Л.С., Титович Е.В., Болмасова А.В., Кураева Т.Л., 20252025Петеркова В.А., Безлепкина О.Б., Панкратова М.С., Чугунов И.С., Лаптев Д.Н., Нагаева Е.В., Ширяева Т.Ю., Колодкина А.А., Созаева Л.С., Титович Е.В., Болмасова А.В., Кураева Т.Л.Peterkova V.A., Bezlepkina O.B., Pankratova M.S., Chugunov I.S., Laptev D.N., Nagaeva E.V., Shiryaeva T.U., Kolodkina A.A., Sozaeva L.S., Titovich E.V., Bolmasova A.V., Kuraeva T.L.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/13593

Современная детская эндокринология – это рассвет диагностики и лечения на основе научных изысканий в области молекулярной генетики и разработки технических средств диагностики и лечения. В детской клинике Эндокринологического научного центра  РАМН (далее ЭНЦ), позднее -  Институте детской эндокринологии ФГБУ «НМИЦ эндокринологии» Минздрава России молекулярно-генетические исследования, начатые в 1990 году, проводились совместно с Медико-генетическим научным центром им. Н.П. Бочкова,   Институтом иммунологии, а также в кооперации с зарубежными клиниками. С 2001 года в ЭНЦ функционирует лаборатория молекулярной генетики. 

Modern pediatric endocrinology represents the dawn of a new era in diagnosis and treatment, based on scientific research in molecular genetics and the development of advanced diagnostic and therapeutic tools. At the Pediatric Clinic of the En docrinology Research Centre (ERC), later the Institute of Pediatric Endocrinology, molecular genetic research began in 1990 in collaboration with the N.P. Bochkov Research Centre for Medical Genetics and the Institute of Immunology. The ERC’s Laboratory of Molecular Genetics has been operational since 2001, conducting research in partnership with foreign clinics and institutions.

детская эндокринологиягенетикаИнститут детской эндокринологииpediatric endocrinologygeneticsInstitute of pediatric endocrinologyDedov I.I., Kuraeva T.L., Peterkova V.A., Nosikov V.V., Sergeev A.S., i dr. Geneticheskie faktory v razvitii sakharnogo diabeta tipa 1 v Rossii. // Molekulyarnaya meditsina. — 2003. — № 1 (1). — S. 31-37. [Dedov II, Kuraeva TL, Peterkova VA, Nosikov VV, Sergeev AS, i dr. Geneticheskie faktory v razvitii saharnogo diabeta tipa 1 v Rossii. Molekulyarnaya medicina. 2003;1(1):31-37 (In Russ.).]Kuraeva T.L., Titovich E.V., Zil'berman L.I., Nosikov V.V., Peterkova V.A., Dedov I.I. Geneticheskie i immunologicheskie aspekty sakharnogo diabeta 1-go tipa. // Uspekhi fiziologicheskikh nauk. — 2003. — №1. — S.45-62. [Kuraeva TL, Titovich EV, Zil’berman LI, Nosikov VV, Peterkova VA, Dedov II. Geneticheskie i immunologicheskie aspekty saharnogo diabeta 1-go tipa. Uspekhi f iziologicheskih nauk. 2003;1:45-62 (In Russ.).]Titovich Elena Vital'evna Kuraeva Tamara Leonidovna Ivanova Olga Nikolaevna Stepanova Svetlana Mikhailovna Peterkova Valentina Alexandrovna Dedov Ivan Ivanovich The Prediction of Type 1 Diabetes in discordant and concordant families: 16 years of follow-up. Focus on the future Diabetes mellitus 2014 10 83 89 17 3 10.14341/dm2014383-89Dedov Ivan Ivanovich Remizov Oleg Valer'evich Peterkova Valentina Alexandrovna Sakharnyy diabet 2 tipa u detey i podrostkov Diabetes mellitus 2015 07 26 31 4 4 10.14341/dm2001426-31Dedov I I Zubkova Natal'ya Anatol'evna Arbatskaya N Yu Akopova A G Tyul'pakov A N MODY2: Clinical and molecular genetic characteristics of 13 cases of the disease. The first description of MODY in Russia Problems of Endocrinology 2014 03 3 7 55 3 10.14341/probl20095533-7Sechko E. A. Kuraeva T. L. Zilberman L. I. Laptev D. N. Bezlepkina O. B. Peterkova V. A. Non-immune diabetes mellitus in children due to heterozygous mutations in the glucokinase gene (GCK-MODY): data of 144 patients Diabetes mellitus 2022 05 145 154 25 2 10.14341/dm12819Laptev D. N. Sechko E. A. Romanenkova E. M. Eremina I. A. Bezlepkina O. B. Peterkova V. A. Mokrysheva N. G. Clinical prediction model for MODY type diabetes mellitus in children Diabetes mellitus 2024 03 33 40 27 1 10.14341/dm13091Dedov I.I., Peterkova V.A., Remizov O.V., Shcherbacheva L.N., Panfilova E.V., Maksimova V.P., Temple I.K., Shield J.P. Tranzitornyi neonatal'nyi diabet vsledstvie duplikatsii v 6-i khromosome [dup(6)(q24.2q24.2) de novo]. // Sakharnyi diabet. — 2002. — T.5. — №2. — S.18-23. [Dedov II, Peterkova VA, Remizov OV, Shcherbacheva LN, Panfilova EV, Maksimova VP, Temple IK, Shield JP ? Tranzitornyy? neonatal’nyy diabet vsledstvie duplikatsii v 6-y khromosome [dup(6) (q24.2q24.2) de novo].Dedov Ivan Ivanovich Peterkova Valentina Alexandrovna Remizov Oleg Valer'evich Shcherbacheva L N Panfilova E V Maksimova V P Temple I K Shield J P ? Tranzitornyy? neonatal'nyy diabet vsledstvie duplikatsii v 6-y khromosome [dup(6)(q24.2q24.2) de novo] Diabetes mellitus 2013 11 18 23 5 2 10.14341/2072-0351-5473Emel'yanov Andrey Olegovich Petryaykina Elena Efimovna Kuraeva Tamara Leonidovna Zakharova Ekaterina Yur'evna Peterkova Valentina Alexandrovna Feasibility of efficacious therapy of diabetes mellitus by sulfonylurea agents in neonates with KCNJII gene mutation: originalobservation Diabetes mellitus 2013 11 86 90 12 3 10.14341/2072-0351-5460Fofanova OV, Takamura N, Kinoshita S, et co. A mutation hot spot in the Prop-1 gene in Russian children with combined pituitary hormone deficiency. Pituitary. 1998,1:45-49Dedov I. I. Bezlepkina O. B. Pankratova M. S. Nagaeva E. V. Raykina E. N. Peterkova V. A. Growth hormone — 30 years of clinical practice: past, present, future Problems of Endocrinology 2024 02 4 12 70 1 10.14341/probl13432Kareva M.A. Vrozhdennaya disfunktsiya kory nadpochechnikov u detei: epidemiologiya, geneticheskaya osnova, personalizirovannyi podkhod k diagnostike i lecheniyu, monitoring somaticheskogo i reproduktivnogo zdorov'ya: diss…dokt.med.nauk, 14.01.02 Moskva, 2018. — 212 s. [Kareva MA. Vrozhdennaya disfunkciya kory nadpochechnikov u detej: epidemiolo-giya, geneticheskaya osnova, personalizirovannyj podhod k diagnostike i lecheniyu, monitoring somaticheskogo i reproduktivnogo zdorov’ya: diss…dokt.med.nauk, 14.01.02 Moskva, 2018.- 212 s. (In Russ.)]Zefirova G.S., Gur'eva I.V., Mirzoyants G.G., Peterkova V.A. Autoimmunnyi yuvenil'nyi poliendokrinnyi sindrom (endokrinnyi kandidoz). // Terapevticheskii arkhiv. — 1983. — T. 55. — №12. — S. 87 – 91. [Zefirova GS, Gur’eva IV, Mirzoyanc GG, Peterkova VA. Autoimmunnyj yuve-nil’nyj poliendokrinnyj sindrom (endokrinnyj kandidoz). Terapevticheskij arhiv. 1983;55(12):87-91 (In Russ.)]Oftedal Bergithe E. Hellesen Alexander Erichsen Martina M. Bratland Eirik Vardi Ayelet Perheentupa Jaakko Kemp E. Helen Fiskerstrand Torunn Viken Marte K. Weetman Anthony P. Fleishman Sarel J. Banka Siddharth Newman William G. Sewell W.A.C. Sozaeva Leila S. Zayats Tetyana Haugarvoll Kristoffer Orlova Elizaveta M. Haavik Jan Johansson Stefan Knappskog Per M. Løvås Kristian Wolff Anette S.B. Abramson Jakub Husebye Eystein S. Dominant Mutations in the Autoimmune Regulator AIRE Are Associated with Common Organ-Specific Autoimmune Diseases Immunity 2015 06 1185 1196 42 6 10.1016/j.immuni.2015.04.021Bastard Paul Orlova Elizaveta Sozaeva Leila Lévy Romain James Alyssa Schmitt Monica M. Ochoa Sebastian Kareva Maria Rodina Yulia Gervais Adrian Le Voyer Tom Rosain Jérémie Philippot Quentin Neehus Anna-Lena Shaw Elana Migaud Mélanie Bizien Lucy Ekwall Olov Berg Stefan Beccuti Guglielmo Ghizzoni Lucia Thiriez Gérard Pavot Arthur Goujard Cécile Frémond Marie-Louise Carter Edwin Rothenbuhler Anya Linglart Agnès Mignot Brigite Comte Aurélie Cheikh Nathalie Hermine Olivier Breivik Lars Husebye Eystein S. Humbert Sébastien Rohrlich Pierre Coaquette Alain Vuoto Fanny Faure Karine Mahlaoui Nizar Kotnik Primož Battelino Tadej Trebušak Podkrajšek Katarina Kisand Kai Ferré Elise M.N. DiMaggio Thomas Rosen Lindsey B. Burbelo Peter D. McIntyre Martin Kann Nelli Y. Shcherbina Anna Pavlova Maria Kolodkina Anna Holland Steven M. Zhang Shen-Ying Crow Yanick J. Notarangelo Luigi D. Su Helen C. Abel Laurent Anderson Mark S. Jouanguy Emmanuelle Neven Bénédicte Puel Anne Casanova Jean-Laurent Lionakis Michail S. Preexisting autoantibodies to type I IFNs underlie critical COVID-19 pneumonia in patients with APS-1 Journal of Experimental Medicine 2021 04 218 7 10.1084/jem.20210554 Enikeeva S.R. Sozaeva L.S. Chugunov I.S. Kareva M.A. Bogdanov V.P. Kalinchenko N.Yu. Kolodkina A.A. Bezlepkina O.B. Peterkova V.A. Primary adrenal insufficiency with X-linked inheritance in children Pediatria. Journal named after G.N. Speransky 2023 12 8 18 102 6 10.24110/0031-403x-2023-102-6-8-18Enikeeva S. R. Chugunov I. S. Kareva M. A. Kurkina M. V. Zakharova E. Y. Michailova S. V. Bezlepkina O. B. Peterkova V. A. Mokrysheva N. G. Adrenal insufficiency as part of X-linked adrenoleukodystrophy Problems of Endocrinology 2024 07 83 92 70 3 10.14341/probl13335Kokoreva K.D. Vrozhdennyi izolirovannyi gipogonadotropnyi gipogonadizm: klinicheskii polimorfizm i molekulyarno geneticheskaya geterogennost': dis…kand.med.nauk, 3.1.19, Moskva, 2023. — 126 s. [Kokoreva KD. Vrozhdennyj izolirovannyj gipogonadotropnyj gipogonadizm: klinicheskij polimorfizm i molekulyarno-geneticheskaya geterogennost’: dis…kand.med. nauk, 3.1.19, Moskva, 2023. — 126 s. (In Russ.)]Melikyan M.A. Vrozhdennyi giperinsulinizm: molekulyarnaya osnova, klinicheskie osobennosti i personalizirovannoe lechenie: diss…dokt.med.nauk, 14.01.02 Moskva, 2019. — 311 s. [Melikyan MA. Vrozhdennyj giperinsulinizm: molekulyarnaya osnova, klinicheskie osobennosti i personalizirovannoe lechenie: diss…dokt. med.nauk, 14.01.02 Moskva, 2019.- 311 s. (In Russ.)]Polyakova E.Yu. Molekulyarnye markery v diagnostike i lechenii dobrokachestvennykh uzlovykh obrazovanii i raka shchitovidnoi zhelezy: dis…kand.med.nauk, 14.00.03 Moskva, 2002.-128 s. [Polyakova EYu. Molekulyarnye markery v diagnostike i lechenii dobrokachestven-nyh uzlovyh obrazovanij i raka shchitovidnoj zhelezy: dis…kand.med.nauk, 14.00.03 Moskva, 2002.-128 s. (In Russ.)]Shreder E.V. Vrozhdennyi gipotireoz: klinicheskie varianty, molekulyarno-geneticheskie osnovy i radioizotopnaya vizualizatsiya: dis…kand.med.nauk, 3.1.19, Moskva, 2024.-141 s. [Shryoder EV. Vrozhdennyj gipotireoz: klinicheskie varianty, molekulyarno-geneticheskie osnovy i radioizotopnaya vizualizaciya: dis…kand.med.nauk, 3.1.19, Moskva, 2024.-141 s. (In Russ.)]Shreder E. V. Vadina T. A. Solodovnikova E. N. Zakharova V. V. Degtyarev M. V. Konyukhova M. B. Sergeeva N. V. Bezlepkina O. B. Pathogenic <i>TSHR</i> variants in children with thyroid dysgenesis Problems of Endocrinology 2023 02 76 85 69 1 10.14341/probl13210Shreder E. V. Vadina T. A. Konyukhova M. B. Nagaeva E. V. Shiryaeva T. Y. Zakharova S. M. Degtyarev M. V. Vyazmenov E. O. Bezlepkina O. B. Ectopic thyroid gland: clinical features and diagnostics in children Problems of Endocrinology 2022 07 76 85 68 3 10.14341/probl12876

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