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ДЕТСКАЯ ЭНДОКРИНОЛОГИЯ — НАУЧНЫЕ ДОСТИЖЕНИЯ И ПЕРСПЕКТИВЫ РАЗВИТИЯ

https://doi.org/10.18705/1607-419X-2015-21-1-16-26

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Аннотация

В публикации представлен обзор результатов наиболее важных научных исследований в области детской эндокринологии, проводимых в мире в последние годы. Приведены современные сведения о молекулярно-генетических, клеточных и протеомных механизмах болезней эндокринных органов у детей, обсуждены персонифицированные подходы к их диагностике и терапии. Проанализирован мировой опыт лечения низкорослости, нарушений формирования пола, болезни Кушинга и других эндокринных расстройств. Обозначены перспективные направления развития детской эндокринологии.

Об авторе

И. Л. Никитина
Северо-Западный федеральный медицинский исследовательский центр, Санкт-Петербург
Россия

Никитина Ирина Леоровна — доктор медицинских наук, заведующая научно-исследовательской лабораторией детской эндокринологии института эндокринологии, профессор кафедры внутренних болезней ФГБУ «СЗФМИЦ» Минздрава России; главный внештатный педиатр Минздрава РФ по СЗФО.



Список литературы

1. Berchold LA, Storling ZM, Ortis F, Lage K, BangBerthelsen C, Bergholdt R et al. Huntingtin-interacting protein 14 is a type 1 diabetes candidate protein regulating insulin secretion and b-cell apoptosis. Proc Natl Acad Sci. 2011;108(37):681–688.

2. Bergholdt R, Brorsson CA, Palleja A, Berchold LA, Floyel T, Bang-Berthelsen C et al. Idenification of novel type 1 diabetes candidate genes by integrating genome-wide association data, protein-protein interactions, and human pancreatic islet gene expression. Diabetes. 2012;61(4):954–962.

3. Rakyan VK, Beyan H, Down TA, Hawa MI, Maslau S, Aden D et al. Idenification of type 1 diabetes-associated DNA methylation variable positions that precede disease diagnosis. PLoS Genet. 2011;7(9): е1002300.

4. Lindskog C, Korsgren O, Ponten F, Eriksson JW, Johansson L, Danielsson A. Novel pancreatic β-cell-specific proteins: antibody-based proteomics for identification of new biomarker candidates. J Proteomics. 2012;75(9):2611–2620.

5. Koulmanda M, Bhasin M, Fan Z, Hanidziar D, Goel N, Putheti P et al. Alpha-1-antitripsin reduces inflammation and enhances mouse pancreatic islet transplant survival. Proc Natl Acad Sci USA. 2012;109(38):15443–15448.

6. Sjoberg L, Pitkaniemi J, Haapala L, Kaaja R, Tuomilehto J. Fertility in people with childhood-onset type 1 diabetes. Diabetilogia. 2013;56(1):78–81.

7. Sorensen IM, Joner G, Jenum PA, Eskild A, Torensen PA, Stene LC. Maternal serum levels of 25-hydroxyvitamin D during pregnancy and risk of type 1 diabetes in the offspring. Diabetes. 2012;61(1):175–178.

8. Markle JG, Frank DN, Mortin-Toth S, Robenson CE, Feazel LM, Rolle-Kampczyk U et al. Sex differences in the gut microbiome drive hormone-dependent regulation of autoimmunity. Science. 2013;339(6123):1084–1088.

9. Marcovecchio LM, Chiarelli F. Type 1 diabetes: clinical and experimental. Yearbook of Pediatric Endocrinology (eds. K Ong and Z Hochberg). 2013;127–145.

10. Yi P, Park JS, Melton DA. Betatropin: a hormone that controls pancreatic b-cells proliferation. Cell. 2013;153(4):747–758.

11. Kusters DM, de Beaufort C, Widhalm K, Guardamagna O, Bratina N, Ose L et al. Pediatric screening for hypercholesterinemia in Europe. Arch Dis Child. 2012;97(3):272–276.

12. Wabitsch M, Tews D, Denser Ch, Moss A, Lennerz B, von Schnurbein J et al. Obesity and weight regulation. Yearbook of Pediatric Endocrinology (ed. K Ong and Z Hochberg). 2012:153–174.

13. Juonala M, Magnussen CG, Berenson GS, Venn A, Burns TL, Sabin MA et al. Childhood adiposity, adult adiposity, and cardiovascular risk factors. N Engl J Med. 2011;365(20):1876–1885.

14. Loche S, Cappa M, Ghizzoni L, Maghnie M, Savage MO (eds): Pediatric Neuroendocrinology. Endocr Dev Basel Karger. 2010;17(7):44–51.

15. Никитина И. Л. Старт пубертата — известное и новое. Артериальная гипертензия. 2013;19(3):227–236.

16. Loche S, Cappa M, Ghizzoni L, Maghnie M, Savage MO. Pediatric Neuroendocrinology. Endocr Dev Basel Karger. 010;17(3):52–62.

17. Hutson JM, Southwell BR, Petersen BL, Thorup J, Cortes D. Germ cells development in the postnatal testis: the key to prevent malignancy in cryptorchidism? Front Endocrinol (Lausanne). 2012;3(3):176.

18. Banks K, Tuason E, Berhane K, Koh CJ, De Filippo RE, Chang A et al. Cryptorchidism and testicular germ cell tumor: comprehensive meta-analysis reveals that association between these conditions diminished over time and is modified by clinical characteristics. Front Endocrinol (Lausanne). 2012;3:182.

19. Wit JM, Hero M, Nunez SB. Aromatase inhibitors in pediatrics. Nat Rev Endocrinol. 2012;8(3):135–147.

20. Gault EJ, Perry RJ, Cole TJ, Casey S, Paterson WF, Hindmarsh PC. Effect of oxandrolone and timing of pubertal induction on final height in Terner`s syndrome: randomized, double-blind, placebo-controlled trial. Br Med J. 2011;342: d1980.

21. Sahlin L, Soder O. Reproductive endocrinology. Yearbook of Pediatric Endocrinology (eds. by K Ong and Z Hochberg). 2012:81–97.

22. Garcia-Falgueras A, Dick F, Swaab L, Loche S, Cappa M, Ghizzoni L. Pediatric Neuroendocrinology. Endocr Dev Basel Karger. 2010;17:22–35.

23. Allen LS, Hines M, Shryne JE, Gorski RA. Two sexually dimorphic cell groups in the human brain. J Neurosci. 1989;9 (2):497–506.

24. Никитина И. Л., Байрамов А. А. Формирование пола и репродуктивной системы человека — прошлое, настоящее, будущее. Лечение и профилактика. 2014;2(10):66–75. [Nikitina IL, Bairamov AA. Development of fetus and human reproductive system — past, present, future. Lecheniye i Profilaktika = Treatment and Prevention. 2014;2(10):66–75. In Russian].

25. Elfferich P, van Royen ME, van de Wijngaart DJ, Trapman J, Drop SLS, van den Akker DJ et al. Variable loss of functional activities of androgen receptor mutants in patients with androgen insensitivity syndrome. Sexual Development. 2013;7 (5):223–234.

26. Veyrunes F, Perez J, Paintsil SNC, Fichet-Calvet E, BrittonDavidian J. Insights into the evolutionary history of the X-linked sex reversal mutation in Mus minutoides: clues from sequence analyses of the Y-linked SRY gene. Sexual Development. 2013;7 (5):244–252.

27. Nicol B, Yano A, Jouanno E, Guerin A, Fostier A, Guiguen Y. Follistin is early player in rainbow trout ovarian differentiation and is both colocalized with aromatase and regulated by the Wnt pathway. Sexual Development. 2013;7(5):266–276.

28. Wit JM, Mullis PE. Genetics of growth. Horm Res Paediatr. 2013;80(6):379–380.

29. Kempers MJE, van der Crabben SN, de Vroede M, Alfen-van der Velden J, Netea-Maier RT, Duim RAJ et al. Splice site mutations in GH1 detected in previously (genetically) undiagnosed families with congenital isolated growth hormone deficiency type II. Horm Res Paediatr. 2013;80:390–396.

30. Feigerlova E, Swinyard M, Derr MA, Farnsworth J, Shayne FA, Ron GR et al. A novel GHR intronic variant, c. 266 + 83G > T, activates a Cryptic 5` Splice site causing severe GHR deficiency and classical GH insensitivity syndrome. Horm Res Paediatr. 2013;80(6):397–405.

31. Malaquias AC, Scalco RC, Fontenele EGP, Costalonga EF, Baldin AD, Braz AF et al. The sitting height/height ratio for age in healthy and short individuals and its potential role in selecting short children for SHOX analysis. Horm Res Paediatr. 2013;80 (6):448–456.

32. Brioude F, Lacoste A, Netchine I, Vazquez M-P, Auber F, Audry G et al. Beckwith-Wiedemann syndrome: growth pattern and tumor risk according to molecular mechanism, and guidelines for tumor surveillance. Horm Res Paediatr. 2013;80(6):457–465.

33. De Graaff LCG, Clark AJL, Tauber M, Ranke MB, Johnston LB, Caliebe J et al. Association analysis of ten candidate genes in a large multinational cohort of small for gestational age children and children with idiopatic short stature (NESTEGG study). Horm Res Paediatr. 2013;80:466–476.

34. Stevens A, de Leonibus C., Whatmore A, Hanson D, Murray P, Chatelain P et al. Pharmacogenomics related to growth disorders. Horm Res Paediatr. 2013;80:477–490.

35. Lem AJ, van der Kaay DC, de Ridder MA, Bakkervan Waarde WM, van der Hulst FJ, Mulder JC et al. Adult height in short children born SGA treated with growth hormone and gonadotropin-releasing hormone analog: results of a randomized, dose-response GH trial. J Clin Endocrinol Metab. 2012;97(11):4096–4105.

36. Siemensma EP, Tummers-de Lind van Wijngaaden RF, Festen DA, Troeman ZC, van Alfen-van der Velden AA et al. Beneficial effects of growth hormone treatment on cognition in children with Prader-Willi syndrome: a randomized controlled trial and longitudinal study. J Clin Endocrinol Metab. 2012;97 (7):2307–2314.

37. Guevara-Aquirre J, Rosenbloom AL, Guevara-Aquirre M, Saavedra J, Procel P. Recommended IGF-1 dosage causes greater fat accumulation and osseous maturation than lower dosage and may compromise long-term growth. J Clin Endocrinol Metab. 2013;98(2):839–845.

38. Sun Y, Bak B, Schoenmakers N, van Trotsenburg AS, Oostdijk W, Voshol P et al. Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement. Nat Genet. 2012;44(12):1375–1381.

39. Samuels ME, Gallo-Payet N, Pinard S, Hasselmann C, Magne F, Patry L et al. Bioinactive ACTH causing glucocorticoid deficiency. J Clin Endocrinol Metab. 2013;98(2):736–742.

40. Lonser RR, Wind JJ, Nieman LK, Weil RJ, deVroom HL, Oldfield EH. Outcome of surgical treatment of 200 children with Cushing`s disease. J Clin Endocrinol Metab. 2013;98(3):892–901.

41. Lodish M, Dunn SV, Sinaii N, Keil MF, Stratakis CA. Recovery of the hypothalamic-pituitary-adrenal axis in children and adolescents after surgical cure of Cushing`s disease. J Clin Endocrinol Metab. 2012;97(5):1483–1491.

42. Jayakody SA, Andoniadou CL, Gaston-Massuet C, Signore M, Cariboni A, Bouloux PM. SOX2 regulates the hypothalamic-pituitary axis at multiple level. J Clin Invest. 2012;122(10):3635–3646.

43. Li H, Collado M, Villasante A, Matheu A, Lynch CJ, Canamero M, Rizzoti K. p27 kip1 directly represses SOX2 during embryonic stem cell differentiation. Cell Stem Cell. 2012;11 (6):845–852.

44. Smith N, Quinton R. Kallmann syndrome. Br Med J. 2012;345:е6971.

45. Reynald R, Jayakody SA, Monnier C, Saveanu A, Bouligand J, Guedj AM et al. PROKR2 variants in multiple hypopituitarism with pituitarity stalk interruption. J Clin Endocrinol Metab. 2012;97(6):e1068–1073.


Для цитирования:


Никитина И.Л. ДЕТСКАЯ ЭНДОКРИНОЛОГИЯ — НАУЧНЫЕ ДОСТИЖЕНИЯ И ПЕРСПЕКТИВЫ РАЗВИТИЯ. Артериальная гипертензия. 2015;21(1):16-26. https://doi.org/10.18705/1607-419X-2015-21-1-16-26

For citation:


Nikitina I.L. PEDIATRIC ENDOCRINOLOGY — SCIENTIFIC ACHIEVEMENTS AND FUTURE DIRECTIONS. "Arterial’naya Gipertenziya" ("Arterial Hypertension"). 2015;21(1):16-26. (In Russ.) https://doi.org/10.18705/1607-419X-2015-21-1-16-26

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ISSN 1607-419X (Print)
ISSN 2411-8524 (Online)