ПРЕЖДЕВРЕМЕННОЕ ПОЛОВОЕ СОЗРЕВАНИЕ: МОЛЕКУЛЯРНАЯ ГЕНЕТИКА, СОВРЕМЕННЫЕ ПОДХОДЫ К ДИАГНОСТИКЕ И ЛЕЧЕНИЮ
Ключевые слова:
преждевременное половое созревание, центральное преждевременное половое развитие (ЦППР), периферическое преждевременное половое развитие (ПППР), идиопатическое, KISS1, KISS1R, MKRN3, DLK1, врожденная дисфункция коры надпочечников, синдром Мак-Кьюна-ОлбрайтаАннотация
Статья посвящена основным молекулярно-генетическим механизмам и новым подходам к диагностике и лечению центрального преждевременного полового созревания. Преждевременное половое созревание — это появление вторичных половых признаков до 8 лет у девочек и до 9 лет у мальчиков. Распространенность сильно варьируется в зависимости от исследования. Обычно считается, что заболеваемость составляет 1 на 5000-10000 детей, но в некоторых странах мира наблюдается рост заболеваемости, включая США, Испанию, Францию, Данию, Корею и Китай с 1990 года. Сложные взаимодействия с генетическими факторами, факторами питания и окружающей среды играют решающую роль в определении сроков полового созревания. На сегодняшний день мутации в четырех генах (KISS1, KISS1R, MKRN3, DLK1) были подтверждены как причинные варианты, приводящие к центральному идиопатическому преждевременному половому созреванию.
Библиографические ссылки
Andersson ED, Sandberg R, Lendahl U. Notch signaling: simplicity in design, versatility in function. Development 2011;138:3593-612.
Bangalore Krishna K, Fuqua JS, Rogol AD, Klein KO, Popovic J, Houk CP, et al. Use of gonadotropin-releasing hormone analogs in children: update by an international consortium. Horm Res Paediatr2019; 91:357–72.
Bessa DS, Macedo DB, Brito VN, França MM, Montenegro LR, Cunha-Silva M, Silveira LG, Hummel T, Bergad ´a I, Braslavsky D, Abreu AP, Dauber A, Mendonca BB, Kaiser UB, Latronico AC. High frequency of MKRN3 mutations in male central precocious puberty previously classified as idiopathic. Neuroendocrinology. 2017;105(1):17–25.
Cristina Mucaria, Nina Tyutyusheva, GiampieroI., Baroncelli Ketal. Central precocious puberty in girls and boys: similar it iesand differences. Sexes 2021, 2,119- 131.YawenZhangрекомендации «Преждевременное половое развитие». Проблемы эндокринологии 2021;67(5):84-103.
Dauber A, Cunha-Silva M, Macedo D, Brito V, Abreu A, Roberts S, Montenegro L, Andrew M, Kirby A, Weirauch M, et al. Paternally inherited DLK1 deletion associated with familial central precocious puberty. О Clin Endocrinol Metab 2017. 102 1557-1567.
David A, Jill E, Jillian E, Karen S. Disorders of Puberty: An Approach to Diagnosis and Management. American Family Physician. Volume 96, Number 9 November 1, 2017.
Dominique S, Ibrahima B, Nancy M, Emmanuel E, Anne P, Delphine Z, Muriel H et al. Mutations in the maternally imprinted gene MKRN3 are common in familial central precocious puberty. European Journal of Endocrinology. (2016) 174, 1-8.
E.K. Neely, D.M. Wilson, P.A. Lee, M. Stene, R.L. Hintz Spontaneous serum gonadotropin concentrations in the evaluation of precocious puberty J Pediatr, 127 (1995), pp. 47-52
Elvira V Brauner, Alexander S Busch, Camilla Eckert-Lind, Trine Koch, Martha Hickey. Trends in the incidence of central precocious puberty and normal variant puberty among children in Denmark, 1998 to 2017.
Eugster EA. Update on precocious puberty in girls. J Pediatr Adolesc Gynecol 2019; 32:455-9.
Falix F, Aronson D, Lamers W, Gaemers I. Possible roles of DLK1 in the Notch pathway during development and disease. Biochim Biophys Acta 2012. 1822 988-995.
Grandone A, Cirillo G, Sasso M, Capristo C, Tornese G, Marzuillo P, Luongo C, Rosaria Umano G, Festa A, Coppola R, Miraglia Del Giudice E, Perrone L. MKRN3 levels in girls with central precocious puberty and correlation with sexual hormone levels: a pilot study. Endocrine. 2018;59(1):203–208.
Ioannides Y, Lokulo-Sodipe K, Mackay D, Davies J, Temple I. Temple syndrome: improving the recognition of an underdiagnosed chromosome 14 imprinting disorder: an analysis of 51 published cases. О Med Genetic 2014. 51 495-501.
Kim SH, Huh K, Won S, Lee KW, Park MJ. A significant increase in the incidence of central precocious puberty among Korean girls from 2004 to 2010. PloS One (2015) 10(11):e0141844.
Krstevska-Konstantinova M, Jovanovska J, Tasic VB, Montenegro LR, Beneduzzi D, Silveira LF, et al. Mutational analysis of KISS1 and KISS1R in idiopathic central precocious puberty. J Pediatr Endocrinol Metab 2014;27:199-201.
KyuHee Choy and Seung Chan Park. An increasing tendency of precocious puberty among Korean children from the perspective of COVID-19 pandemic effect. Frontiers in Paediatrics. 2022, 10:968511.
Latronico A.C., Brito V.N., Carel J.C. (2016) Causes, diagnosis and treatment of central precocious puberty. Lancet Diabetes Endocrinol 4, 265-274.
Lee Moal J, Rigou A, Le Tertre A, De Crouy-Channel P, Legel J, Carel J. Marked Geographic Patterns in the incidence of idiopathic central precocious puberty: nationwide study in France. Eur J Endocrinol (2018) 178(1):33-41.
Lu W, Wang J, Li C, Sun M, Hu R, Wang W. a novel mutation in 5’-UTR of Makorin ring finger protein 3 gene associated with the familial precocious puberty. Acta Biochim Biophys Sin. (2018) 50-1291-3.
Luan X, Zhou Y, Wang W, Yu H, Li P, Gan X, et al. Association study of the polymorphisms in the KISS1 gene with central precocious puberty in Chinese girls. Eur J Endocrinol2007;157:113-8.
Macedo DB, Franca MM, Montenegro LR, Cunha Silva M, Best DS, Abreu AP et al. central precocious puberty caused by the heterozygous deletion in the MKRN3 promotor region. Neuroendocrinology (2018) 107;127-32.
Pallavee P,Rupal Samal. Precocious puberty: a clinical review. Int J Reprod Contracept Obstet Gynecol. 2018 Mar;7(3):771-777.
Paul B Kaplowitz, Mary L Windle, Lynne Lipton Levitsky, Robert P Hoffman. Precocious puberty. Pediatrics: General medicine/ Jan 24, 2022/
Pavlos F, Nicos S, Meropi T, Nikoletta P, Anestis M, Andreas K, Vassos N, Leonidas A. central precocious puberty caused by novel mutations in the promotor and 5’-UTR regions of the imprinted MKRN3 gene. Frontiers in Endocrinology. (2019) Volume 10. 677.
Semple RK, Achermann JC, Ellery J, Farooqi IS, Karet FE, Stanhope RG, et al. Two novel missense mutations in G protein-coupled receptor 54 in a patient with hypogonadotropic hypogonadism. J Clin Endocrinol Metab. 2005;90:1849–55.
Shu-Nin Yeh, Wei-Hsin Ting, Chi-Yu Huang, Shih-Kang Huang, Yi Chen Lee, Wei- Kian Chua, Chao-Hsu Lin, Bi-Wen Cheng, Yann-Jinn Lee. Diagnostic evaluation of central precocious puberty in girls. Pediatrics &Neonatology Volume 62, Issue 2, March 2021, Pages 187-194.
Silveira LG, Noel SD, Silveira-Neto AP, Abreu AP, Brito VN, http://doi.org/10.23838/pfm.2021.00107 123 Hae Sang Lee Santos MG, et al. Mutations of the KISS1 gene in disorders of puberty. J Clin Endocrinol Metab2010;95:2276-80.
Simsek E, Demiral M, Ceylaner S, Kirel B. Two frameshift mutations in MKRN3 in Turkish patients with familial central precocious puberty. Horm Res Paediatr. 2017;87:405–11.
Sorensen K, Aksglaede L, Petersen JH, Juul A. Recent changes in pubertal timing in healthy Danish boys: association in body mass index. J Endocrinol Metab. 2010;95(1):2630270.
Soriano-Guillen L, Corripio R, Labarta JI, Canete R et al. Central precocious puberty in children living in Spain: incidence, prevalence, and influence of adoption and immigration. J Clin Endocrinol Metab. 2010 Sep;95(9):4305-13.
Stephanie A Roberts and Ursula B Kaiser. Genetic etiologies of central precocious puberty and the role of imprinted genes. European Journal of Endocrinology(2020) 183, R107–R117.
Teilmann G, Pedersen CB, Jensen TK, Skakkebaek NE, Juul A. Prevalence of precocious pubertal development im Denmark: an epidemiological study based on national registries. Paediatrics, 2005 Dec;116(6):1323-8.
Tommiska J, Sørensen K, Aksglaede L, Koivu R, Puhakka L, JuulA, et al. LIN28B, LIN28A, KISS1, and KISS1R in idiopathic central precocious puberty. BMC Res Notes 2011;4:363. 18.
Valadares, L.P.; Meireles, C.; De Toledo, I.P.; De Oliveira, R.S.; de Castro, L.C.G.; Abreu, A.P.; Carroll, R.S.; Latronico, A.C.; Kaiser, U.B.; Guerra, E.N.S.; et al. MKRN3 mutations in central precocious puberty: A systematic review and meta-analysis. J. Endocr. Soc. 2019, 3, 979–995.
ViníciusNahimeBrito Angela Maria Spinola-Castro Cristiane Kochi CristianeKopacek Paulo César Alves da Silva Gil Guerra-Júnior. Central precocious puberty: revisiting the diagnosis and therapeutic management. Arch. Endocrinol. Metab. 60 (2) • Apr 2016 •
Wei, C.; Davis, N.; Honour, J.; Crowne, E. The investigation of children and adolescents with abnormalities of pubertal timing. Ann. Clin. Biochem. 2017, 54, 20–32.
West A, Vojta PJ, Welch DR, Weissman BE. Chromosome localization and genomic structure of the KiSS-1 metastasis suppressor gene (KISS1). Genomics1998;54:145-8.
Yawen Zhang, Jianmin Ni, Lei Zhang, Tingting Yu, Xiaoqing Li, Peng Xue et al. The prevalence of precocious puberty among children in Qufu city, Shandong Province, China, a population-based study. Frontiers in Endocrinology. 13:910119.
Yifan Liu, Tingting Yu, Xiaoqing Li, Dongxue Pan, Xin Lai, Yao Chen, Xiumin Wang et al. Prevalence of precocious puberty aming Chinese children: a school population-based study. Endocrine (2021) 72:573-581.
В.А. Петеркова, И.Л. Алимова, Е.Б. Башнина и др. Клинические рекомендации «Преждевременное половое развитие». Проблемы эндокринологии 2021;67(5):84-103.
