Возможности сохранения и реализации репродуктивной функции у девочек с синдромом Тернера (аналитический обзор)
Возможности сохранения и реализации репродуктивной функции у девочек с синдромом Тернера (аналитический обзор)
Кумыкова З.Х., Батырова З.К. Возможности сохранения и реализации репродуктивной функции у девочек с синдромом Тернера (аналитический обзор). Гинекология. 2018; 20 (5): 56–58.
DOI: 10.26442/2079-5696_2018.5.56-58
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Kumykova Z.Kh., Batyrova Z.K. Possibilities of preservation and realization of reproductive function in girls with Turner syndrome (analytical review).
Gynecology. 2018; 20 (5): 56–58.
DOI: 10.26442/2079-5696_2018.5.56-58
Возможности сохранения и реализации репродуктивной функции у девочек с синдромом Тернера (аналитический обзор)
Кумыкова З.Х., Батырова З.К. Возможности сохранения и реализации репродуктивной функции у девочек с синдромом Тернера (аналитический обзор). Гинекология. 2018; 20 (5): 56–58.
DOI: 10.26442/2079-5696_2018.5.56-58
________________________________________________
Kumykova Z.Kh., Batyrova Z.K. Possibilities of preservation and realization of reproductive function in girls with Turner syndrome (analytical review).
Gynecology. 2018; 20 (5): 56–58.
DOI: 10.26442/2079-5696_2018.5.56-58
Синдром Тернера (СТ) является наиболее распространенной хромосомной аномалией у женщин. СТ ассоциирован с частичной или полной потерей второй Х-хромосомы у фенотипических женщин и связан с увеличением заболеваемости и смертности. Существует много дискуссионных вопросов наблюдения, ведения и консультирования пациенток с СТ. Этот обзор подчеркивает необходимость мультидисциплинарного подхода к изучению данной патологии для обеспечения возможностей реализации репродуктивной функции пациенток с СТ. Ключевые слова: синдром Тернера, девочки-подростки, сохранение фертильности.
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Turner syndrome (TS) is the most common chromosomal abnormality in females. TS is associated with partial or complete loss of the second X-chromosome in phenotypic females and is associated with increased morbidity and mortality. There are many controversial issues of monitoring, management and counseling of patients with TS. This review emphasizes the need for a multidisciplinary approach to the study of this pathology to enable the realization of reproductive function in patients with TS.
1. Reynaud K, Cortvrindt R, Verlinde F et al. Number of ovarian follicles in human fetuses with the 45,X karyotype. Fertility Steril 2004; 81 (4): 1112–9.
2. Castronovo C, Rossetti R, Rusconi D et al. Gene dosage as a relevant mechanism contributing to the determination of ovarian function in Turner syndrome. Human Reprod 2014; 29 (2): 368–79.
3. Aso K, Koto S, Higuchi A et al. Serum FSH level below 10 mIU/mL at twelve years old is an index of spontaneous and cyclical menstruation in Turner syndrome. Endocrine J 2010; 57 (10): 909–13.
4. Visser JA, Hokken-Koelega AC, Zandwijken GR et al. Anti-Mullerian hormone levels in girls and adolescents with Turner syndrome are related to karyotype, pubertal development and growth hormone treatment. Human Reprod 2013; 28: 1899–907.
5. Bondy CA. Care of girls and women with turner syndrome: a guideline of the turner syndrome study group. J Clin Endocrinol Metab 2007; 9: 10–25.
6. Gravholt CH. Clinical practice in Turner syndrome. Nat Clin Pract Endocrinol Metab 2005; 1 (1): 41–52.
7. Schoemaker MJ, Swerdlow AJ, Higgins CD et al. United Kingdom Clinical Cytogenetics G. Mortality in women with turner syndrome in Great Britain: a national cohort study. J Clin Endocrinol Metab 2008; 93 (12): 4735–42.
8. Oliveira RM, Verreschi IT, Lipay MV et al. Y chromosome in Turner syndrome: review of the literature. Sao Paulo Med J 2009; 127 (6): 373–8.
9. Курьянова Ю.Н., Уварова Е.В. Молекулярно-генетические основы синдрома Тернера. Клиническое значение тканевого мозаицизма в выборе тактики обследования и лечения больных. Репродуктивное здоровье детей и подростков. 2013; 1: 67–84. / Kur'ianova Iu.N., Uvarova E.V. Molekuliarno-geneticheskie osnovy sindroma Ternera. Klinicheskoe znachenie tkanevogo mozaitsizma v vybore taktiki obsledovaniia i lecheniia bol'nykh. Reproduktivnoe zdorov'e detei i podrostkov. 2013; 1: 67–84. [in Russian]
10. Trolle C, Hjerrild B, Cleemann L et al. Sex hormone replacement in Turner syndrome. Endocrine 2012; 41: 200–19.
11. Davenport ML. Moving toward an understanding of hormone replacement therapy in adolescent girls: looking through the lens of Turner syndrome. Ann NY Acad Sci 2008; 1135: 126–37.
12. Courant F, Aksglaede L, Antignac JP et al. Assesment of circulation sex steroid levels in prepubertal and pubertal boys and girls by a novel ultrasensitive gas chromatography-tandem mass spectrometry method. J Clin Endocrinol Metab 2010; 95: 82–92.
13. Oktay K, Bedoschi G, Berkowitz K et al. Fertility preservation in women with turner syndrome: a comprehensive review and practical guidelines. J Ped Adolescent Gynecol 2016; 29: 409–16.
14. Quigley CA, Wan X, Garg S et al. Effects of low-dose estrogen replacement during childhood on pubertal development and gonadotropin concentration in patients with Turner Syndrome: results of a randomized, double-blind, placebo-controlled clinical trial. J Clin Endocrinol Metab 2014; 99: 1754–64.
15. Ross JL, Quigley CA, Cao D et al. Growth hormone plus childhood low-dose estrogen in Turner`s syndrome. N Eng J Med 2011; 354: 1230–42.
16. Chevalier N, Letur H, Lelannou D et al. French Study Group for Oocyte Donation. Materno-fetal cardiovascular complications in Turner syndrome after oocyte donation: insufficient prepregnancy screening and pregnancy follow-up are associated with poor outcome. J Clin Endocrinol Metab 2011; 96 (2): E260–7.
17. Hagman A, Loft A, Wennerholm UB et al. Obstetric and neonatal outcome after oocyte donation in 106 women with Turner syndrome: a Nordic cohort study. Hum Reprod 2013; 28: 1598–609.
18. Bryman I, Lisskulla S, Kerstin B et al. Pregnancy rate and outcome in Swedish women with Turner syndrome. Fertil Steril 2011; 95 (8): 2507–10.
19. Hovatta O. Ovarian function and in vitro fertilization (IVF) in Turner syndrome. Pediatr Endocrinol Rev 2012; 9 (2): 713–7.
20. Hadnott TN, Gould HN, Gharib AM, Bondy CA. Outcomes of spontaneous and assisted pregnancies in Turner syndrome: the U.S. National Institutes of Health experience. Fertil Steril 2011; 95 (7): 2251–6.
21. Bernard V, Donadille B, Zenaty D et al. Spontaneous fertility and pregnancy outcomes amongst 480 women with Turner syndrome. Hum Reprod 2016; 31: 782–8.
________________________________________________
1. Reynaud K, Cortvrindt R, Verlinde F et al. Number of ovarian follicles in human fetuses with the 45,X karyotype. Fertility Steril 2004; 81 (4): 1112–9.
2. Castronovo C, Rossetti R, Rusconi D et al. Gene dosage as a relevant mechanism contributing to the determination of ovarian function in Turner syndrome. Human Reprod 2014; 29 (2): 368–79.
3. Aso K, Koto S, Higuchi A et al. Serum FSH level below 10 mIU/mL at twelve years old is an index of spontaneous and cyclical menstruation in Turner syndrome. Endocrine J 2010; 57 (10): 909–13.
4. Visser JA, Hokken-Koelega AC, Zandwijken GR et al. Anti-Mullerian hormone levels in girls and adolescents with Turner syndrome are related to karyotype, pubertal development and growth hormone treatment. Human Reprod 2013; 28: 1899–907.
5. Bondy CA. Care of girls and women with turner syndrome: a guideline of the turner syndrome study group. J Clin Endocrinol Metab 2007; 9: 10–25.
6. Gravholt CH. Clinical practice in Turner syndrome. Nat Clin Pract Endocrinol Metab 2005; 1 (1): 41–52.
7. Schoemaker MJ, Swerdlow AJ, Higgins CD et al. United Kingdom Clinical Cytogenetics G. Mortality in women with turner syndrome in Great Britain: a national cohort study. J Clin Endocrinol Metab 2008; 93 (12): 4735–42.
8. Oliveira RM, Verreschi IT, Lipay MV et al. Y chromosome in Turner syndrome: review of the literature. Sao Paulo Med J 2009; 127 (6): 373–8.
9. Kur'ianova Iu.N., Uvarova E.V. Molekuliarno-geneticheskie osnovy sindroma Ternera. Klinicheskoe znachenie tkanevogo mozaitsizma v vybore taktiki obsledovaniia i lecheniia bol'nykh. Reproduktivnoe zdorov'e detei i podrostkov. 2013; 1: 67–84. [in Russian]
10. Trolle C, Hjerrild B, Cleemann L et al. Sex hormone replacement in Turner syndrome. Endocrine 2012; 41: 200–19.
11. Davenport ML. Moving toward an understanding of hormone replacement therapy in adolescent girls: looking through the lens of Turner syndrome. Ann NY Acad Sci 2008; 1135: 126–37.
12. Courant F, Aksglaede L, Antignac JP et al. Assesment of circulation sex steroid levels in prepubertal and pubertal boys and girls by a novel ultrasensitive gas chromatography-tandem mass spectrometry method. J Clin Endocrinol Metab 2010; 95: 82–92.
13. Oktay K, Bedoschi G, Berkowitz K et al. Fertility preservation in women with turner syndrome: a comprehensive review and practical guidelines. J Ped Adolescent Gynecol 2016; 29: 409–16.
14. Quigley CA, Wan X, Garg S et al. Effects of low-dose estrogen replacement during childhood on pubertal development and gonadotropin concentration in patients with Turner Syndrome: results of a randomized, double-blind, placebo-controlled clinical trial. J Clin Endocrinol Metab 2014; 99: 1754–64.
15. Ross JL, Quigley CA, Cao D et al. Growth hormone plus childhood low-dose estrogen in Turner`s syndrome. N Eng J Med 2011; 354: 1230–42.
16. Chevalier N, Letur H, Lelannou D et al. French Study Group for Oocyte Donation. Materno-fetal cardiovascular complications in Turner syndrome after oocyte donation: insufficient prepregnancy screening and pregnancy follow-up are associated with poor outcome. J Clin Endocrinol Metab 2011; 96 (2): E260–7.
17. Hagman A, Loft A, Wennerholm UB et al. Obstetric and neonatal outcome after oocyte donation in 106 women with Turner syndrome: a Nordic cohort study. Hum Reprod 2013; 28: 1598–609.
18. Bryman I, Lisskulla S, Kerstin B et al. Pregnancy rate and outcome in Swedish women with Turner syndrome. Fertil Steril 2011; 95 (8): 2507–10.
19. Hovatta O. Ovarian function and in vitro fertilization (IVF) in Turner syndrome. Pediatr Endocrinol Rev 2012; 9 (2): 713–7.
20. Hadnott TN, Gould HN, Gharib AM, Bondy CA. Outcomes of spontaneous and assisted pregnancies in Turner syndrome: the U.S. National Institutes of Health experience. Fertil Steril 2011; 95 (7): 2251–6.
21. Bernard V, Donadille B, Zenaty D et al. Spontaneous fertility and pregnancy outcomes amongst 480 women with Turner syndrome. Hum Reprod 2016; 31: 782–8.
Авторы
З.Х.Кумыкова*, З.К.Батырова
ФГБУ «Национальный медицинский исследовательский центр акушерства, гинекологии и перинатологии им. В.И.Кулакова» Минздрава России. 117997, Россия, Москва, ул. Академика Опарина, д. 4
*zai-kumykova@yandex.ru
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Z.Kh.Kumykova*, Z.K.Batyrova
V.I.Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology of the Ministry of Health of the Russian Federation. 117997, Russian Federation, Moscow, ul. Akademika Oparina, d. 4
*zai-kumykova@yandex.ru