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Репродуктивное здоровье девочек с врожденной гиперплазией коры надпочечников

Аннотация

Врожденная гиперплазия коры надпочечников — группа наследственных заболеваний, связанных с рядом дефектов ферментных систем надпочечников, которые ведут к нарушению полового развития. Заболевания характеризуются триадой обязательных признаков: снижение продукции кортизола, высокое содержание адренокортикотропного гормона в крови, двусторонняя гиперплазия коры надпочечников. В обзоре представлен анализ диагностики врожденной гиперплазии коры надпочечников, а также данные о дисфункции менструального цикла, ведущей к нарушению репродуктивного здоровья девочек.

Об авторах

Л. В. Адамян
Московский государственный медико-стоматологический университет им. А.И. Евдокимова
Россия
акад. РАМН, проф., засл. деятель науки РФ, зам. директора по научной работе Научного центра акушерства, гинекологии и перинатологии им. В.И. Кулакова, зав. кафедрой репродуктивной медицины и хирургии Московского государственного медико-стоматологического университета им. А.И. Евдокимова


Е. А. Богданова
Московский государственный медико-стоматологический университет им. А.И. Евдокимова
Россия
д.м.н., проф. тойже кафедры


Е. В. Сибирская
Измайловская детская городская клиническая больница, Москва
Россия

д.м.н., асе. той же кафедры, врач гинекологического отделения Измайловской детской городской клинической больницы Москвы



Т. М. Глыбина
Измайловская детская городская клиническая больница, Москва
Россия
засл. врач Российской Федерации, зав. отделением гинекологии Измайловской детской городской клинической больницы Москвы


М. Б. Гарунова
Московский государственный медико-стоматологический университет им. А.И. Евдокимова
Россия
асп. той же кафедры


Список литературы

1. BongiovanniA.M., RootA.W. The adrenogenital syndrome. N Engl J Med 1963; 268: 1283-1399.

2. Gallais A. Le syndrome genitosurrenal, etude anatomo-clinique. Paris 1912; 224.

3. Верещинский А. О. Надпочечно-половой синдром с точки зрения хирургической патологии и терапии. Вестн хир 1923; 4: 3: 207—219. (Vereshchynsky A.O. Adrenal-sexual syndrome in terms of surgical pathology and therapy. Vestn khir 1923; 4: 3: 207-219.)

4. Therrell B. Newborn screening for congenital adrenal hyperplasia. Endocrinol Metab Clin North Am 2001; 1:15—30.

5. Pang S., Murphey W., Levine L.S. et al. A pilot newborn screening for congenital adrenal hyperplasia in Alaska. J Clin Endocrinol Metab 1982; 3: 413-420.

6. Pang S., Wallace M. Hofman L. et al. Worldwide experience in newborn screening for classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Pediatrics 1988; 6: 866—874.

7. Speiser P., Dupont В., Rubinstein P. et al. High frequency of nonclassical steroid 21-hydroxylase deficiency. Am J Hum Genet 1985; 4: 650—667.

8. Fitness J., Dixit N., Webster D. et al. Genotyping of CYP21, linked chromosome 6p markers, and a sex-specific gene in neonatal screening for congenital adrenal hyperplasia. J Clin Endocrinol Metab 1999; 3: 960—966.

9. Cam J., Moshang T. Jr., Bongiovanni A.M. et al. Elevated 17-hydroxyprogesterone and testosterone in a newborn with

10. -beta-hydroxysteroid dehydrogenase deficiency. N Engl J Med 1985; 10: 618-621.

11. Speiser P., Dupont J., Zhu D. et al. Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Invest 1992; 2: 584—595.

12. Wtchel S., Lee P. /dentification of heterozygotic carriers of 21-hydroxylase deficiency: sensitivity of ACTH stimulation tests. Am J Med Genet 1982; 4: 337—342.

13. Clayton P., Miller W., Oberfield S.E. et al. Consensus statement on 21-hydroxylase deficiency from the European Society for Paediatric Endocrinology and the Lawson Wilkins Pediatric Endocrine Society. Horm Res 2002; 4: 188—195.

14. White P., Speiser P. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Endocr Rev 2000; 3: 245—291.

15. Pang S., Spence D.A., New M.I. Newborn screening for congenital adrenal hyperplasia with special reference to screening in Alaska. AnnNYAcad Sci 1985; 458: 90—102.

16. Pang S.Y., Wallace M.A., Hofman L. et al. Worldwide experience in newborn screening for classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Pediatrics 1988; 81:6:866—874.

17. Карева М.А., Орлова Е.М. Адреногенитальный синдром: прошлое, настоящее и будущее. Пробл эндокринол 2011; 1: 66—70. (Kareva M.A., Orlova E.M. Adrenogenital syndrome: past, present and future. Probljendokrinol 2011; 1: 66-70.)

18. Forest M., Morel Y, David M. et al. Prenatal treatment of congenital adrenal hyperplasia. Trends Endocrinol Metab 1998; 7: 284-289.

19. New M., Carlson A., Obeid J. et al. Prenatal diagnosis for congenital adrenal hyperplasia in 532 pregnancies. J Clin Endocrinol Metab 2001; 12: 5651-5657.

20. Morel Y, Miller L. Clinical and molecular genetics of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Adv Hum Genet 1991; 20: 1—68.

21. Partsch C, Sippell W, MacKenzie I.Z. et al. The steroid hormonal milieu of the undisturbed human fetus and mother at 16-20 weeks gestation. J Clin Endocrinol Metab 1991; 5: 969—974.

22. Kay H, Bird I., Coe C.L. et al. Antenatal steroid treatment and adverse fetal effects: what is the evidence? J Soc Gynecol Investig 2000; 5: 269-278.

23. AlizaiN., Thomas D., LilfordRJ. et al. Feminizing genitoplasty for congenital adrenal hyperplasia: what happens at puberty? JUrol 1999; 5: 1588-1591.

24. Elhalaby E., Abo Sikeena M. Delayed presentation of congenital diaphragmatic hernia. Pediatr Surg Int 2002; 5-6: 480-485.

25. Mullis P., Hindmarsh P., Brook C.G. et al. Sodium chloride supplement at diagnosis and during infancy in children with salt-losing 21-hydroxylase deficiency. Eur J Pediatr 1990; 1: 22—25.

26. Charmandari E., Lichtarowicz-Krynska E., Hindmarsh PC. etal. Congenital adrenal hyperplasia: management during critical illness. Arch Dis Child 2001; 1: 26—28.

27. Escobar-Morreale H., Sanchon R., San Millan J.L. et al. A prospective study of the prevalence of nonclassical congenital adrenal hyperplasia among women presenting with hyperandrogenic symptoms and signs. J Clin Endocrinol Metab 2008; 2: 527-533.

28. Richards G., Grumbach M., Kaplan S.L. et al. The effect of long acting glucocorticoids on menstrual abnormalities in patients with virilizing congenital adrenal hyperplasia. J Clin Endocrinol Metab 1978; 6: 1208—1215.

29. Lonning, P., Jacobs S., Jones A.L. et al. The influence of CGS 16949A on peripheral aromatisation in breast cancer patients. Br J Cancer 1991; 5: 789-793.

30. Speiser P., Azziz R-, Baskin L.S. et al. Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab 2010; 9: 4133-4160.

31. Hughes I., Read G. Menarche and subsequent ovarian function in girls with congenital adrenal hyperplasia. Horm Res 1982; 2: 100-106.

32. Bachelot A., Chakhtoura Z., Samara-Boustani D. et al. Bone health should be an important concern in the care of patients affected by 21 hydroxylase deficiency. Int J Pediatr Endocrinol 2010.

33. RosenfieldR., BickelS., Razdan A.K. et al. Amenorrhea related to progestin excess in congenital adrenal hyperplasia. Obstet Gynecol 1980; 2: 208-215.

34. StikkelbroeckN., HermusA., Suliman H.M. et al. Asymptomatic testicular adrenal rest tumours in dolescent and adult males with congenital adrenal hyperplasia: basal and follow-up investigation after 2.6 years. J Pediatr Endocrinol Metab 2004; 4: 645-653.

35. Riad-Fahmy D., Read G., Walker R.F. et al. Steroids in saliva for assessing endocrine function. Endocr Rev 1982; 4: 367—395.

36. Kemp Т., Safaeian M., Miner S. et al. Oral Immunoglobulin Levels are Not a Good Surrogate for Cervical Immunoglobulin Levels. Front Oncol 2012; 2: 61.

37. Groschl M., Rauh M., Dorr H.G. et al. Cortisol and 17-hydroxyprogesterone kinetics in saliva after oral administration of hydrocortisone in children and young adolescents with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Endocrinol Metab 2002; 3: 1200-1204.

38. Vuorento T., Huhtaniemi I. Daily levels of salivary progesterone during menstrual cycle in adolescent girls. Fertil Steril 1992; 4: 685-690.

39. Gray S., Ebe L., Feldman H.A. et al. Salivary progesterone levels before menarche: a prospective study of adolescent girls. J Clin Endocrinol Metab 2010; 7: 3507-3511.

40. Auchus J. Management of the adult with congenital adrenal hyperplasia. Int J Pediatr Endocrinol 2010; 614107.

41. Klingensmith G., Garcia S., Jones H. et al. Glucocorticoid treatment of girls with congenital adrenal hyperplasia: effects on height, sexual maturation, and fertility. J Pediatr 1977; 6: 996-1004.

42. Richards G., Grumbach M., Kaplan S.L. et al. The effect of long acting glucocorticoids on menstrual abnormalities in patients with virilizing congenital adrenal hyperplasia. J Clin Endocrinol Metab 1978; 6: 1208-1215.

43. Lin-Su K., Harbison M., Lekarev O. et al. Final adult height in children with congenital adrenal hyperplasia treated with growth hormone. J Clin Endocrinol Metab 2011; 6: 1710-1717.

44. Korth-Schutz, S., Virdis R., Saenger P. et al. Serum androgens as a continuing index of adequacy of treatment of congenital adrenal hyperplasia. J Clin Endocrinol Metab 1978; 3:452—458.

45. Kang M., Kim S., Lee Y.A. et al. Relationships of basal level of serum 17-hydroxyprogesterone with that of serum androstenedione and their stimulated responses to a low dose of ACTH in young adult patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Korean Med Sci2011; 11: 1454-1460.

46. Rosenfield R., Ehrlich E., Cleary R.F. et al. Adrenal and ovarian contributions to the elevated free plasma androgen levels in hirsute women. J Clin Endocrinol Metab 1972; 1: 92-98.

47. RosenfieldR., Fang V., Dupon С et al. The effects of low doses of depot estradiol and testosterone in teenagers with ovarian failure and Turner's syndrome. J Clin Endocrinol Metab 1973; 4: 574—580.

48. MaffeiL., Murata Y, Rochira V. etal. Dysmetabolic syndrome in a man with a novel mutation of the aromatase gene: effects of testosterone, alendronate, and estradiol treatment. J Clin Endocrinol Metab 2004; 1: 61—70.

49. Rappaport R., Cornu G., Rover P. et al. Statural growth in congenital adrenal hyperplasia treated with hydrocortisone. J Pediatr 1968; 5: 760-766.

50. Helleday J., Siwers В., Ritzen E.M. et al. Subnormal androgen and elevated progesterone levels in women treated for congenital virilizing 21-hydroxylase deficiency. J Clin Endocrinol Metab 1993; 4: 933—936.

51. Holmes-Walker D., Conway G., Honour J.W. et al. Menstrual disturbance and hypersecretion of progesterone in women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Clin Endocrinol 1995; 3: 291—296.

52. Abd El Dayem S., Anwar G., Salama H et al. Bone mineral density, bone turnover markers, lean mass, and fat mass in Egyptian children with congenital adrenal hyperplasia. Arch Med Sci 2010; 1: 104-110.


Рецензия

Для цитирования:


Адамян Л.В., Богданова Е.А., Сибирская Е.В., Глыбина Т.М., Гарунова М.Б. Репродуктивное здоровье девочек с врожденной гиперплазией коры надпочечников. Российский вестник перинатологии и педиатрии. 2014;59(2):43-47.

For citation:


Adamyan L.V., Bogdanova E.A., Sibirskaya E.V., Glybina T.M., Garunova M.B. Reproductive health of girls with congenital adrenal hyperplasia. Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 2014;59(2):43-47. (In Russ.)

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