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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
Gynecology. 2018; 20 (5): 56–58.
DOI: 10.26442/2079-5696_2018.5.56-58
DOI: 10.26442/2079-5696_2018.5.56-58
________________________________________________
Gynecology. 2018; 20 (5): 56–58.
DOI: 10.26442/2079-5696_2018.5.56-58
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Аннотация
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.
Key words: Turner syndrome, adolescents, fertility preservation.
Ключевые слова: синдром Тернера, девочки-подростки, сохранение фертильности.
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Key words: Turner syndrome, adolescents, fertility preservation.
Полный текст
Список литературы
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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.
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.
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.
________________________________________________
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
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
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
________________________________________________
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
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