期刊论文详细信息
Reproductive Biology and Endocrinology
Reproductive and obstetric outcomes in mosaic Turner’s Syndrome: a cross-sectional study and review of the literature
Eray Çalışkan1  Özkan Özdamar2  Esen Ulak3  Yasin Ceylan1  Yiğit Çakıroğlu1  Emek Doğer1 
[1] Department of Obstetrics & Gynecology, Kocaeli University School of Medicine, Kocaeli, Turkey;Department of Obstetrics & Gynecology, Golcuk Military Hospital, Kocaeli, Turkey;Department of Medical Genetics, Kocaeli University School of Medicine, Kocaeli, Turkey
关键词: Reproductive outcome;    Obstetric outcome;    Turner’s syndrome;    Mosaicisim;   
Others  :  1216377
DOI  :  10.1186/s12958-015-0055-7
 received in 2015-03-12, accepted in 2015-05-28,  发布年份 2015
PDF
【 摘 要 】

Background

Turner’s syndrome (TS) is depicted as a total or partial absence of one X chromosome that results in ovarian dysgenesis. Chances of spontaneous pregnancy in TS are rare and the outcome of the pregnancies is known to be poor with an increased risk of miscarriage and stillbirths. Our aim is to evaluate reproductive and obstetric outcomes of natural conception and in-vitro fertilization (IVF) cycles in mosaic TS patients.

Methods

A total of 22 mosaic TS cases (seventeen 45,X/46,XX and five 45,X/46,XX/47,XXX karyotypes) were evaluated.

Results

Live birth and abortion rates were found as 32.7 % and 67.3 %, respectively in 52 pregnancies. Implantation, clinical pregnancy and take home baby rates were detected as 3.7 %, 8.6 % and 5.7 %, respectively per IVF cycle as a result of 35 cycles. Fecundability analysis revealed that 5 % of the cases experienced first pregnancy within 6 months and 8 % within the first 2 years. Mosaicism ratio did not have an effect on the time to the first pregnancy (p = .149).

Conclusion

Only a small proportion of the mosaic TS patients conceive in the first 2 years of the marriage. Age of menarche and age of marriage appear not to have any impact on the chance of conceiving. Mosaic TS cases should counseled about the low odds of pregnancy and high miscarriage rates.

【 授权许可】

   
2015 Doğer et al.

【 预 览 】
附件列表
Files Size Format View
20150630085923232.pdf 426KB PDF download
【 参考文献 】
  • [1]Hook EB, Warburton D. Turner syndrome revisited: review of new data supports the hypothesis that all viable 45, X cases are cryptic mosaics with a rescue cell line, implying an origin by mitotic loss. Hum Genet. 2014; 133:417-24.
  • [2]El-Mansoury M, Barrenäs ML, Bryman I, Hanson C, Larsson C, Wilhelmsen L et al.. Chromosomal mosaicism mitigates stigmata and cardiovascular risk factors in Turner syndrome. Clin Endocrinol (Oxf). 2007; 66:744-51.
  • [3]Hanson L, Bryman I, Barrenäs ML, Janson PO, Wahlström J, Albertson-Wikland K et al.. Genetic analysis of mosaicism in 53 women with Turner syndrome. Hereditas. 2001; 134:153-9.
  • [4]Birkebaek NH, Crüger D, Hansen J, Nielsen J, Bruun-Petersen G. Fertility and pregnancy outcome in Danish women with Turner syndrome. Clin Genet. 2002; 61:35-9.
  • [5]Yuge A, Takai N, Nishida Y, Narahara H, Miyakawa I. Spontaneous pregnancy in a 45, X/46, X, r (X) Turner’s mosaic patient. Acta Obstet Gynecol Scand. 2003; 82:775-6.
  • [6]Hennekam RCM, Krantz ID, Allanson JE. Turner syndrome. In Gorlin’s syndromes of the head and neck. Oxford University Press, Oxford; 2010.
  • [7]Hovatta O. Pregnancies in women with Turner’s syndrome. Ann Med. 1999; 31:106-10.
  • [8]Lippe B. Turner syndrome. Endocrinol Metab Clin North Am. 1991; 20:121-52.
  • [9]Davenport ML. Approach to the patient with Turner syndrome. J Clin Endocrinol Metab. 2010; 95:1487.
  • [10]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. Gynecol Endocrinol. 1998; 12:83-7.
  • [11]Abir R, Fisch B, Nahum R, Orvieto R, Nitke S, Ben RZ. Turner’s syndrome and fertility: current status and possible putative prospects. Hum Reprod Update. 2001; 7:603-10.
  • [12]Onalan G, Yilmaz Z, Durak T, Sahin FI, Zeyneloglu HB. Successful pregnancy with preimplantation genetic diagnosis in a woman with mosaic Turner syndrome. Fertil Steril. 2011; 95(5):1788-e1-3.
  • [13]Shaffer LG, Slovak ML, Campbell LJ. An International System for Human Cytogenetic Nomenclature (ISCN-2009) Basel. Karger, Switzerland; 2009.
  • [14]Sonntag B, Meschede D, Ullmann V, Gassner P, Horst J, Nieschlag E et al.. Low-level sex chromosome mosaicism in female partners of couples undergoing ICSI therapy does not significantly affect treatment outcome. Hum Reprod. 2001; 16:1648-52.
  • [15]Ogata T, Matsuo N. Turner syndrome and female sex chromosome aberrations: deduction of the principal factors involved in the development of clinical features. Hum Genet. 1995; 95:607-29.
  • [16]Hovatta O. Ovarian function and in vitro fertilization (IVF) in Turner syndrome. Pediatr Endocrinol Rev. 2012; 9 Suppl 2:713-7.
  • [17]Cabanes L, Chalas C, Christin-Maitre S, Donadille B, Felten ML, Gaxotte V et al.. Turner syndrome and pregnancy: clinical practice. Recommendations for the management of patients with Turner syndrome before and during pregnancy. Eur J Obstet Gynecol Reprod Biol. 2010; 152:18-24.
  • [18]Reindollar RH, Novak M, Tho SP, McDonough PG. Adult-onset amenorrhea: a study of 262 patients. Am J Obstet Gynecol. 1986; 155:531-43.
  • [19]Campagne ME. Llamazares RC [Spontaneous puberty and menarche in a patient with Turner syndrome and 45X monosomy]. An Pediatr (Barc). 2009; 70:200-2.
  • [20]Borgström B, Hreinsson J, Rasmussen C, Sheikhi M, Fried G, Keros V et al.. Fertility preservation in girls with turner syndrome: prognostic signs of the presence of ovarian follicles. J Clin Endocrinol Metab. 2009; 94:74-80.
  • [21]Sybert VP. Phenotypic effects of mosaicism for a 47, XXX cell line in Turner syndrome. J Med Genet. 2002; 39:217-20.
  • [22]Bouchlariotou S, Tsikouras P, Dimitraki M, Athanasiadis A, Papoulidis I, Maroulis G et al.. Turner’s syndrome and pregnancy: has the 45, X/47, XXX mosaicism a different prognosis? Own clinical experience and literature review. J Matern Fetal Neonatal Med. 2011; 24:668-72.
  • [23]Demirhan O, Tanrıverdi N, Tunç E, Inandıklıoğlu N, Süleymanova D. Frequency and types of chromosomal abnormalities in Turkish women with amenorrhea. J Pediatr Adolesc Gynecol. 2014; 27:274-7.
  • [24]Gonçalves RO, Santos WV, Sarno M, Cerqueira BA, Gonçalves MS, Costa OL. Chromosomal abnormalities in couples with recurrent first trimester abortions. Rev Bras Ginecol Obstet. 2014; 36(3):113-7.
  • [25]Gekas J, Thepot F, Turleau C, Siffroi JP, Dadoune JP, Briault S et al.. Association des Cytogeneticiens de Langue Francaise. Chromosomal factors of infertility in candidate couples for ICSI: an equal risk of constitutional aberrations in women and men. Hum Reprod. 2001; 16:82-90.
  • [26]Peschka B, Leygraaf J, Van der Ven K, Montag M, Schartmann B, Schubert R et al.. Type and frequency of chromosome aberrations in 781 couples undergoing intracytoplasmic sperm injection. Hum Reprod. 1999; 14:2257-63.
  • [27]Meschede D, Lemcke B, Exeler JR, De Geyter C, Behre HM, Nieschlag E et al.. Chromosome abnormalities in 447 couples undergoing intracytoplasmic sperm injection–prevalence, types, sex distribution and reproductive relevance. Hum Reprod. 1998; 13:576-82.
  • [28]Homer L, Morel F, Gallon F, Le Martelot MT, Amice V, Kerlan V et al.. Does 45, X/46, XX mosaicism with 6–28 % of aneuploidy affect the outcomes of IVF or ICSI? Eur J Obstet Gynecol Reprod Biol. 2012; 163:47-51.
  • [29]Simpson JL. Disorders of sex chromosomes and sexual differentiation. In: Genetics in Obstetrics and Gynecology. Simpson JL, Golbus MS, editors. WB Saunders, Philadelphia; 1992: p.132-64.
  • [30]Reindollar RH, McDonough PG. Delayed sexual development: common causes and basic clinical approach. Pediatr Ann. 1981; 10(5):30-9.
  • [31]Scholtes MC, Behrend C, Dietzel-Dahmen J, van Hoogstraten DG, Marx K, Wohlers S et al.. Chromosomal aberrations in couples undergoing intracytoplasmic sperm injection: influence on implantation and ongoing pregnancy rates. Fertil Steril. 1998; 70:933-7.
  • [32]Bryman I, Sylvén L, Berntorp K, Innala E, Bergström I, Hanson C et al.. Pregnancy rate and outcome in Swedish women with Turner syndrome. Fertil Steril. 2011; 95:2507-10.
  • [33]Foudila T, Söderström-Anttila V, Hovatta O. Turner’s syndrome and pregnancies after oocyte donation. Hum Reprod. 1999; 14:532-5.
  • [34]Khastgir G, Abdalla H, Thomas A, Korea L, Latarche L, Studd J. Oocyte donation in Turner’s syndrome: an analysis of the factors affecting the outcome. Hum Reprod. 1997; 12:279-85.
  • [35]Yaron Y, Ochshorn Y, Amit A, Yovel I, Kogosowki A, Lessing JB. Patients with Turner’s syndrome may have an inherent endometrial abnormality affecting receptivity in oocyte donation. Fertil Steril. 1996; 65:1249-52.
  • [36]Kaneko N, Kawagoe S, Hiroi M. Turner’s syndrome–review of the literature with reference to a successful pregnancy outcome. Gynecol Obstet Invest. 1990; 29:81-7.
  • [37]Nielsen J, Wohlert M. Chromosome abnormalities found among 34,910 newborn children: results from a 13-year incidence study in Arhus Denmark. Hum Genet. 1991; 87:81-3.
  • [38]Kuo PL, Guo HR. Mechanism of recurrent spontaneous abortions in women with mosaicism of X-chromosome aneuploidies. Fertil Steril. 2004; 82:1594-601.
  • [39]2008 Turkey Demographic and Health Survey TDHS-2008; main report: 98. http://www.hips.hacettepe.edu.tr/eng/tdhs08/ar.shtml.
  • [40]Saenger P. Turner’s syndrome. N Engl J Med. 1996; 335:1749-54.
  • [41]Blumenthal AL, Allanson JE. Turner syndrome in a mother and daughter: r(X) and fertility. Clin Genet. 1997; 52:187-91.
  • [42]Singh DN, Hara S, Foster HW, Grimes EM. Reproductive performance in women with sex chromosome mosaicism. Obstet Gynecol. 1980; 55:608-11.
  • [43]Cohen MA, Sauer MV, Lindheim SR. 21-hydroxylase deficiency and Turner’s syndrome: a reason for diminished endometrial receptivity. Fertil Steril. 1999; 72:937-9.
  • [44]Brezina PR, Christianson MS, Nguyen KHD, Siegel A, Benner AT, Kearns WG. Maternal XX/X chromosome mosaicism in donor oocyte in vitro fertilization (IVF). Middle East Fertil Soc J. 2012; 17:129-33.
  • [45]Rodrigues EB, Braga J, Gama M, Guimarães MM. Turner syndrome patients’ ultrasound profile. Gynecol Endocrinol. 2013; 29:704-6.
  • [46]Doerr HG, Bettendorf M, Hauffa BP, Mehls O, Partsch CJ, Said E et al.. Uterine size in women with Turner syndrome after induction of puberty with estrogens and long-term growth hormone therapy: results of the German IGLU Follow-up Study 2001. Hum Reprod. 2005; 20:1418-21.
  • [47]Sibai BM, Caritis SN, Thom E, Klebanoff M, McNellis D, Rocco L et al.. Prevention of preeclampsia with low-dose aspirin in healthy, nulliparous pregnant women. N Engl J Med. 1993; 329:1213-8.
  • [48]Report of the National High Blood Pressure Education Program Working Group on High Blood Pressure in Pregnancy. Am J Obstet Gynecol. 2000;183:S1-S22.
  • [49]Hagman A, Loft A, Wennerholm UB, Pinborg A, Bergh C, Aittomäki K 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.
  • [50]Alvaro Mercadal B, Imbert R, Demeestere I, Englert Y, Delbaere A. Pregnancy outcome after oocyte donation in patients with Turner’s syndrome and partial X monosomy. Hum Reprod. 2011; 26:2061-8.
  • [51]Nowinski GP, Van Dyke DL, Tilley BC, Jacobsen G, Babu WR, Worsham MJ et al.. The frequency of aneuploidy in cultured lymphocytes is correlated with age and gender but not with reproductive history. Am J Hum Genet. 1990; 46:1101-11.
  • [52]Jacobs PA, Brunton M, Court Brown WM, Doll R, Goldstein H. Change of human chromosome count distribution with age: evidence for a sex differences. Nature. 1963; 197:1080-1.
  • [53]Ford JH, Russell JA. Differences in the error mechanisms affecting sex and autosomal chromosomes in women of different ages within the reproductive age group. Am J Hum Genet. 1985; 37:973-83.
  • [54]Guttenbach M, Koschorz B, Bernthaler U, Grimm T, Schmid M. Sex chromosome loss and aging: in situ hybridization studies on human interphase nuclei. Am J Hum Genet. 1995; 57:1143-50.
  文献评价指标  
  下载次数:4次 浏览次数:12次