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Menstruation Cycle and Fertility In Patients With Turner Syndrome

Yıl 2019, Cilt: 16 Sayı: 3, 170 - 176, 01.07.2019

Öz

Turner syndrome is a sex chromosome abnormality due to absence or structural abnormality of one of the X chromosomes. It has an incidence of 1/2500 or 50/10000 of female live births. While spontaneous puberty may develop in 20-30% of the patients, spontaneous menstruation and pregnancy can only be seen in 2-5% of them. Fertility is one of the most important problems faced by the patients with Turner’s syndrome and their families. Spontaneous puberty occurs in 15–30% of girls with TS and 2–5% experience menarche. Only approximately 2–5% of women with TS are able to conceive. Adoption, surrogacy, oocyte donation and in vitro fertilization are the main options for these patients to have children. In this review we discussed fertility options and possible feto-maternal complications in patients with Turner syndrome.

Kaynakça

  • Wolff DJ, Van Dyke DL, Powell CM. Laboratory guideline for Turner synd- rome. Genet Med 2010;12:52-55.
  • Barros BA, Moraes SG, Coeli FB, Assumpção JG, De Mello MP, Ma- ciel-Guerra AT, et al. OCT4 immunohistochemistry may be necessary to identify the real risk of gonadal tumors in patients with Turner syndrome and Y chromosome sequences. Hum Reprod. 2011;26:3450–3455.
  • Morgan T, Turner Syndrome: Diagnosis and Management. Am Fam Phy- sician 2007;76:405-10.
  • Turner H. A syndrome of infantilism congenital webbed neck, and cubitus valgus. Endocrinology 1938; 23: 566-574.
  • Pasquino AM, Passeri F, Pucarelli I, Segni M, Municchi G. Spontaneous pubertal development in Turner’s syndrome. Italian Study Group for Tur- ner’s Syndrome. J Clin Endocrinol Metab, 1997;82:1810–1813.
  • Clement-Jones M, Schiller S, Rao E, Blaschke RJ, Zuniga A, Zeller R, et al. The short stature homeobox gene SHOX is involved in skeletal abnor- malities in Turner syndrome. Hum Mol Genet. 2000; 9:695–702.
  • Trolle C, Hjerrild B, Cleemann L, Mortensen KH, Gravholt CH. Sex hormoC- ne replacement in Turner syndrome. Endocrine. 2012; 41(2):200-19.
  • Stochholm K, Juul S, Juel K, Juel K, Naeraa RW, Gravholt CH. Prevaleno- ce, incidence, diagnostic delay, and mortality in Turner syndrome. J Clin Endocrinol Metab, 2006; 91:3897–3902.
  • Carlson M, Silberbach M. Dissection of the aorta in Turner syndrome: two cases and review of 85 cases in the literature. J Med Genet 2007; 44:745–749
  • O’Gorman CS, Syme C, Bradley TJ. An evaluation of early cardiometa- bolic risk factors in children and adolescents with Turner syndrome. Clin Endocrinol 2013; 78:907–913.
  • Lee MC, Conway GS. Liver dysfunction in Turner syndrome and its rela- tionship to exogenous oestrogen. Eur J Gastroenterol Hepatol 2013; 25: 1141–1145.47.
  • Goldacre MJ, Seminog OO. Turner syndrome and autoimmune diseases: record-linkage study. Arch Dis Child 2014; 99:71–73.
  • Pasquino AM, Passeri F, Pucarelli I, Segni M, Municchi G. Spontaneous pubertal development in Turner’s syndrome. Italian Study Group for Tur- ner’s Syndrome. J Clin Endocrinol Metab, 1997;82:1810–1813.
  • Bondy CA: Turner Syndrome Group. Care of girls and women with Turner Syndrome: a guideline of the Turner Syndrome Study Group. J Clin En- docrinol Metab 2007;92 (1):10–25
  • Davenport ML. Approach to the Patient with Turner Syndrome. 2010; 95 (4): 1487-1495.
  • Hjerrild BE, Mortensen KH, Gravholt CH. Turner syndrome and clinical treatment. British Medical Bulletin 2008; 86: 77–93
  • Lie Fong S, Visser JA, Welt CK, de Rijke YB, Eijkemans MJ, Broekmans FJ, Roes EM, et al. Serum anti-Mullerian hormone levels in healthy femae- les: a nomogram ranging from infancy to adulthood. J Clin Endocrinol Metab 2012; 97:4650–4655.
  • Visser JA, Hokken-Koelega ACS, Zandwijken GRJ, Limacher A, Ranke MB, Flück CE. Antimullerian hormone levels in girls and adolescents with Turner syndrome are related to karyotype, pubertal development and growth hormone treatment. Hum Reprod 2013; 28:1899–1907.
  • Ankarberg-Lindgren C, Kristrom B, Norjavaara E. Physiologic estrogen replacement therapy for puberty induction in girls: a clinical observation study. Horm Res Paediatr 2014; 81:139–244.
  • Quigley CA, Wan X, Garg K, Kowal K, Cutler GB Jr, Ross JL. Effects of low-dose estrogen replacement during childhood on pubertal develop- ment and gonadotropin concentrations in patients with Turner syndrome: results of a randomized, double-blind, placebo-controlled clinical trial. J Clin Endocrinol Metab 2014;99:E1754–1764.
  • Foudila T, Söderström-Anttila V, Hovatta O. Turner’s syndrome and pregA- nancies after oocyte donation. Hum. Reprod. 1999;14:532–535
  • Cleemann L, Holm K, Fallentin E, Skouby SO, Smedegaard H, Mİller N, et al. Uterus and ovaries in girls and young women with Turner syndrome evaluated by ultrasound and magnetic resonance imaging. Clin Endocri - nol (Oxf). 2011;74(6):756-61
  • Sas TCJ, Gault EJ, Zeger Bradsley M, Menke LA, Freriks K, Perry RJ, et al. Safety and efficacy of oxandrolone in growth hormone-treated girls with Turner syndrome: evidence from recent studies and recommendations for use. Horm Res Paediatr 2014; 81:289–297.
  • Kim S-J, Pierce W, Sabaharwal S. The etiology of short stature affects the clinical outcome of lower limb lengthening using external fixation. Acta Orthopaedica 2014; 85:181–186.
  • Torres-Santiago L, Mericq V, Taboada M, Unanue N, Klein KO, Singh R, et al. Metabolic effects of oral versus transdermal 17 b-estradiol (E2): a randomized clinical trial in girls with Turner syndrome. J Clin Endocrinol Metab 2013; 98:2716–2724.
  • Bösze P, Tóth A, Török M. Hormone replacement and the risk of breast cancer in Turner’s syndrome. N Engl J Med 2006;355:2599–2600.
  • Calcaterra V, Gamba G, Montani N, de Silvestri A, Terulla V, Lanati G, et al. Thrombophilic screening in Turner syndrome. J Endocrinol Invest. 2011;34(9):676-9.
  • van Pareren YK, de Muinck Keizer-Schrama SM, Stijnen T, Sas TC, Jan- sen M, Otten BJ, et al. Final height in girls with Turner syndrome after long-term growth hormone treatment in three dosages and low dose est- rogens. J Clin Endocrinol Metab 2003;88:1119–1125.
  • Bertelloni S, Cinquanta L, Baroncelli GI, Simi P, Rossi S, Saggese G. Volumetric bone mineral density in young women with Turner’s syndrome treated with estrogens or estrogens plus growth hormone. Horm. Res. 2000;53:72–76.
  • Hadnott TN, Gould HN, Gharib AM, Bondy CA. Outcomes of spontaneous and assisted pregnancies in Turner syndrome: the U.S. National Institu- tes of Health experience. Fertility and Sterility 2011;95:2251–2256.
  • Bernard V, Donadille B, Zenaty D, Courtillot C, Salenave S, Brac de la Perrière A, Albarel F, et al; CMERC Center for Rare Disease Spontaneous fertility and pregnancy outcomes amongst 480 women with Turner synd- rome. Hum Reprod. 2016;31(4):782-8.
  • Hewitt JK, Jayasinghe Y, Amor DJ, Gillam LH, Warne GL, Grover S, et al. Fertility in Turner syndrome. Clin Endocrinol (Oxf). 2013;79(5):606-14.
  • Bryman I, Sylven L, Berntorp K, Innala E, Bergström I, Hanson C, et al. Pregnancy rate and outcome in Swedish women with Turner syndrome. Fertility and Sterility 2011;95:2507–2510.
  • Bodri D, Vernaeve V, Figueras F, Vidal R, Guillén JJ, Coll O. Oocyte dona - tion in patients with Turner’s syndrome: a successful technique but with an accompanying high risk of hypertensive disorders during pregnancy. Human Reproduction 2006; 21:829–832.
  • Oktay K, Rodriguez-Wallberg KA, Sahin G. Fertility preservation by ovari- an stimulation and oocyte kriyoprezervasyon in a 14-year-old adolescent with Turner syndrome mosaicism and impending premature ovarian failu- re. Fertility and Sterility, 2010;94:753. e15–753. e9
  • Alvaro Mercadal B, Imbert R, Demeestere I, Englert Y, Delbaere A. Preg - nancy outcome after oocyte donation in patients with Turner’s syndrome and partial X monosomy Human Reproduction 2011:26(8):2061–2068.
  • Hagman A, Loft A, Wennerholm UB, Pinborg A, Bergh C, Aittomäki K, Nygren KG, et al. Obstetric and neonatal outcome after oocyte donation in 106 women with Turner syndrome: a Nordic cohort study; Hum Reprod 2013;28(6):1598-1609.
  • Cabanes L, Chalas C, Christin-Maitre S, Donadille B, Felten M, Gaxotte V, et al. Turner syndrome and pregnancy: clinical practice. Recommenda- tions for the management of patients with Turner syndrome before and during pregnancy. Eur J Obstet Gynecol Reprod Biol 2010;152:18–24
  • Bondy C, Rosing D, Reindolla R. Cardiovascular risks of pregnancy in women with Turner syndrome. Fertility and Sterility 2009;91, e31–e32
  • Practice Committee of the American Society for Reproductive Medicine. Increased maternal cardiovascular mortality associated with pregnancy in women with Turner syndrome. Fertil Steril 2012; 97:282–284.
  • Tarani L, Lampariello S, Raguso G, Colloridi F, Pucarelli I, Pasquino AM, et al. Pregnancy in patients with Turner’s syndrome: six new cases and review of literature. Gynecological Endocrinology 1998;12:83-87.

Turner Sendromlu Hastalarda Menstrüel Düzen ve Fertilite

Yıl 2019, Cilt: 16 Sayı: 3, 170 - 176, 01.07.2019

Öz

Turner sendromu X kromozomlarının birinin yokluğu veya yapısal anormalliğine bağlı gelişen bir seks kromozom anormalliğidir. İnsidansı 100.000 canlı kız doğumda 50 veya 2500’de 1 olarak bildirilmiştir. Hastaların %20 -30’u spontan puberte bulguları gösterirken sadece %2-5’inde spontan menstrüasyon ve gebelik görülebilir. Bu nedenle fertilite Turner sendromlu hastaların ve ailelerinin karşılaştığı ve ilgilendiği en önemli sorunlardan birisidir. Evlat edinme, taşıyıcı annelik, oosit bağışı ve in vitro fertilizasyon, bu hastaların çocuk sahibi olmaları için başlıca seçeneklerdir. Son yıllarda başta oosit bağışı olmak üzere yardımcı üreme tekniklerinin geliştirilmesi ile bu hastaların çocuk sahibi olma ihtimalleri arttırılmıştır. Bu derlemede Turner sendromlu hastalarda fertilite seçenekleri incelenmiş ve ister spontan ister yardımcı üreme teknikleri ile olsun gebelik planlandığında anne ve fetus için genel popülasyonla kıyaslandığında daha sıklıkla karşılaşılabilecek komplikasyonlar tartışılmıştır.

Kaynakça

  • Wolff DJ, Van Dyke DL, Powell CM. Laboratory guideline for Turner synd- rome. Genet Med 2010;12:52-55.
  • Barros BA, Moraes SG, Coeli FB, Assumpção JG, De Mello MP, Ma- ciel-Guerra AT, et al. OCT4 immunohistochemistry may be necessary to identify the real risk of gonadal tumors in patients with Turner syndrome and Y chromosome sequences. Hum Reprod. 2011;26:3450–3455.
  • Morgan T, Turner Syndrome: Diagnosis and Management. Am Fam Phy- sician 2007;76:405-10.
  • Turner H. A syndrome of infantilism congenital webbed neck, and cubitus valgus. Endocrinology 1938; 23: 566-574.
  • Pasquino AM, Passeri F, Pucarelli I, Segni M, Municchi G. Spontaneous pubertal development in Turner’s syndrome. Italian Study Group for Tur- ner’s Syndrome. J Clin Endocrinol Metab, 1997;82:1810–1813.
  • Clement-Jones M, Schiller S, Rao E, Blaschke RJ, Zuniga A, Zeller R, et al. The short stature homeobox gene SHOX is involved in skeletal abnor- malities in Turner syndrome. Hum Mol Genet. 2000; 9:695–702.
  • Trolle C, Hjerrild B, Cleemann L, Mortensen KH, Gravholt CH. Sex hormoC- ne replacement in Turner syndrome. Endocrine. 2012; 41(2):200-19.
  • Stochholm K, Juul S, Juel K, Juel K, Naeraa RW, Gravholt CH. Prevaleno- ce, incidence, diagnostic delay, and mortality in Turner syndrome. J Clin Endocrinol Metab, 2006; 91:3897–3902.
  • Carlson M, Silberbach M. Dissection of the aorta in Turner syndrome: two cases and review of 85 cases in the literature. J Med Genet 2007; 44:745–749
  • O’Gorman CS, Syme C, Bradley TJ. An evaluation of early cardiometa- bolic risk factors in children and adolescents with Turner syndrome. Clin Endocrinol 2013; 78:907–913.
  • Lee MC, Conway GS. Liver dysfunction in Turner syndrome and its rela- tionship to exogenous oestrogen. Eur J Gastroenterol Hepatol 2013; 25: 1141–1145.47.
  • Goldacre MJ, Seminog OO. Turner syndrome and autoimmune diseases: record-linkage study. Arch Dis Child 2014; 99:71–73.
  • Pasquino AM, Passeri F, Pucarelli I, Segni M, Municchi G. Spontaneous pubertal development in Turner’s syndrome. Italian Study Group for Tur- ner’s Syndrome. J Clin Endocrinol Metab, 1997;82:1810–1813.
  • Bondy CA: Turner Syndrome Group. Care of girls and women with Turner Syndrome: a guideline of the Turner Syndrome Study Group. J Clin En- docrinol Metab 2007;92 (1):10–25
  • Davenport ML. Approach to the Patient with Turner Syndrome. 2010; 95 (4): 1487-1495.
  • Hjerrild BE, Mortensen KH, Gravholt CH. Turner syndrome and clinical treatment. British Medical Bulletin 2008; 86: 77–93
  • Lie Fong S, Visser JA, Welt CK, de Rijke YB, Eijkemans MJ, Broekmans FJ, Roes EM, et al. Serum anti-Mullerian hormone levels in healthy femae- les: a nomogram ranging from infancy to adulthood. J Clin Endocrinol Metab 2012; 97:4650–4655.
  • Visser JA, Hokken-Koelega ACS, Zandwijken GRJ, Limacher A, Ranke MB, Flück CE. Antimullerian hormone levels in girls and adolescents with Turner syndrome are related to karyotype, pubertal development and growth hormone treatment. Hum Reprod 2013; 28:1899–1907.
  • Ankarberg-Lindgren C, Kristrom B, Norjavaara E. Physiologic estrogen replacement therapy for puberty induction in girls: a clinical observation study. Horm Res Paediatr 2014; 81:139–244.
  • Quigley CA, Wan X, Garg K, Kowal K, Cutler GB Jr, Ross JL. Effects of low-dose estrogen replacement during childhood on pubertal develop- ment and gonadotropin concentrations in patients with Turner syndrome: results of a randomized, double-blind, placebo-controlled clinical trial. J Clin Endocrinol Metab 2014;99:E1754–1764.
  • Foudila T, Söderström-Anttila V, Hovatta O. Turner’s syndrome and pregA- nancies after oocyte donation. Hum. Reprod. 1999;14:532–535
  • Cleemann L, Holm K, Fallentin E, Skouby SO, Smedegaard H, Mİller N, et al. Uterus and ovaries in girls and young women with Turner syndrome evaluated by ultrasound and magnetic resonance imaging. Clin Endocri - nol (Oxf). 2011;74(6):756-61
  • Sas TCJ, Gault EJ, Zeger Bradsley M, Menke LA, Freriks K, Perry RJ, et al. Safety and efficacy of oxandrolone in growth hormone-treated girls with Turner syndrome: evidence from recent studies and recommendations for use. Horm Res Paediatr 2014; 81:289–297.
  • Kim S-J, Pierce W, Sabaharwal S. The etiology of short stature affects the clinical outcome of lower limb lengthening using external fixation. Acta Orthopaedica 2014; 85:181–186.
  • Torres-Santiago L, Mericq V, Taboada M, Unanue N, Klein KO, Singh R, et al. Metabolic effects of oral versus transdermal 17 b-estradiol (E2): a randomized clinical trial in girls with Turner syndrome. J Clin Endocrinol Metab 2013; 98:2716–2724.
  • Bösze P, Tóth A, Török M. Hormone replacement and the risk of breast cancer in Turner’s syndrome. N Engl J Med 2006;355:2599–2600.
  • Calcaterra V, Gamba G, Montani N, de Silvestri A, Terulla V, Lanati G, et al. Thrombophilic screening in Turner syndrome. J Endocrinol Invest. 2011;34(9):676-9.
  • van Pareren YK, de Muinck Keizer-Schrama SM, Stijnen T, Sas TC, Jan- sen M, Otten BJ, et al. Final height in girls with Turner syndrome after long-term growth hormone treatment in three dosages and low dose est- rogens. J Clin Endocrinol Metab 2003;88:1119–1125.
  • Bertelloni S, Cinquanta L, Baroncelli GI, Simi P, Rossi S, Saggese G. Volumetric bone mineral density in young women with Turner’s syndrome treated with estrogens or estrogens plus growth hormone. Horm. Res. 2000;53:72–76.
  • Hadnott TN, Gould HN, Gharib AM, Bondy CA. Outcomes of spontaneous and assisted pregnancies in Turner syndrome: the U.S. National Institu- tes of Health experience. Fertility and Sterility 2011;95:2251–2256.
  • Bernard V, Donadille B, Zenaty D, Courtillot C, Salenave S, Brac de la Perrière A, Albarel F, et al; CMERC Center for Rare Disease Spontaneous fertility and pregnancy outcomes amongst 480 women with Turner synd- rome. Hum Reprod. 2016;31(4):782-8.
  • Hewitt JK, Jayasinghe Y, Amor DJ, Gillam LH, Warne GL, Grover S, et al. Fertility in Turner syndrome. Clin Endocrinol (Oxf). 2013;79(5):606-14.
  • Bryman I, Sylven L, Berntorp K, Innala E, Bergström I, Hanson C, et al. Pregnancy rate and outcome in Swedish women with Turner syndrome. Fertility and Sterility 2011;95:2507–2510.
  • Bodri D, Vernaeve V, Figueras F, Vidal R, Guillén JJ, Coll O. Oocyte dona - tion in patients with Turner’s syndrome: a successful technique but with an accompanying high risk of hypertensive disorders during pregnancy. Human Reproduction 2006; 21:829–832.
  • Oktay K, Rodriguez-Wallberg KA, Sahin G. Fertility preservation by ovari- an stimulation and oocyte kriyoprezervasyon in a 14-year-old adolescent with Turner syndrome mosaicism and impending premature ovarian failu- re. Fertility and Sterility, 2010;94:753. e15–753. e9
  • Alvaro Mercadal B, Imbert R, Demeestere I, Englert Y, Delbaere A. Preg - nancy outcome after oocyte donation in patients with Turner’s syndrome and partial X monosomy Human Reproduction 2011:26(8):2061–2068.
  • Hagman A, Loft A, Wennerholm UB, Pinborg A, Bergh C, Aittomäki K, Nygren KG, et al. Obstetric and neonatal outcome after oocyte donation in 106 women with Turner syndrome: a Nordic cohort study; Hum Reprod 2013;28(6):1598-1609.
  • Cabanes L, Chalas C, Christin-Maitre S, Donadille B, Felten M, Gaxotte V, et al. Turner syndrome and pregnancy: clinical practice. Recommenda- tions for the management of patients with Turner syndrome before and during pregnancy. Eur J Obstet Gynecol Reprod Biol 2010;152:18–24
  • Bondy C, Rosing D, Reindolla R. Cardiovascular risks of pregnancy in women with Turner syndrome. Fertility and Sterility 2009;91, e31–e32
  • Practice Committee of the American Society for Reproductive Medicine. Increased maternal cardiovascular mortality associated with pregnancy in women with Turner syndrome. Fertil Steril 2012; 97:282–284.
  • Tarani L, Lampariello S, Raguso G, Colloridi F, Pucarelli I, Pasquino AM, et al. Pregnancy in patients with Turner’s syndrome: six new cases and review of literature. Gynecological Endocrinology 1998;12:83-87.
Toplam 41 adet kaynakça vardır.

Ayrıntılar

Birincil Dil Türkçe
Bölüm Collection
Yazarlar

Sevgül Fakı Bu kişi benim

Didem Özdemir Bu kişi benim

Bekir Çakır Bu kişi benim

Yayımlanma Tarihi 1 Temmuz 2019
Yayımlandığı Sayı Yıl 2019 Cilt: 16 Sayı: 3

Kaynak Göster

Vancouver Fakı S, Özdemir D, Çakır B. Turner Sendromlu Hastalarda Menstrüel Düzen ve Fertilite. JGON. 2019;16(3):170-6.