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Reproductive Biology and Endocrinology
Published in: Reproductive Biology and Endocrinology 1/2015

Open Access 01-12-2015 | Research

Reproductive and obstetric outcomes in mosaic Turner’s Syndrome: a cross-sectional study and review of the literature

Authors: Emek Doğer, Yiğit Çakıroğlu, Yasin Ceylan, Esen Ulak, Özkan Özdamar, Eray Çalışkan

Published in: Reproductive Biology and Endocrinology | Issue 1/2015

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Abstract

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.
Literature
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.PubMedCrossRef
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.CrossRef
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.PubMedCrossRef
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.PubMedCrossRef
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.PubMedCrossRef
6.
Hennekam RCM, Krantz ID, Allanson JE. Turner syndrome. In Gorlin’s syndromes of the head and neck. Oxford: Oxford University Press; 2010.
7.
8.
Lippe B. Turner syndrome. Endocrinol Metab Clin North Am. 1991;20:121–52. Review.PubMed
9.
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. Review.PubMedCrossRef
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. Review.PubMedCrossRef
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.PubMedCrossRef
13.
Shaffer LG, Slovak ML, Campbell LJ. An International System for Human Cytogenetic Nomenclature (ISCN-2009) Basel. Switzerland: Karger; 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.PubMedCrossRef
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. Review.PubMedCrossRef
16.
Hovatta O. Ovarian function and in vitro fertilization (IVF) in Turner syndrome. Pediatr Endocrinol Rev. 2012;9 Suppl 2:713–7.PubMed
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.PubMedCrossRef
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.PubMedCrossRef
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.CrossRef
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.PubMedCrossRef
21.
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.PubMedCrossRef
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.PubMedCrossRef
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.PubMedCrossRef
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.PubMedCrossRef
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.PubMedCrossRef
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.PubMedCrossRef
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.PubMedCrossRef
29.
Simpson JL. Disorders of sex chromosomes and sexual differentiation. In: Simpson JL, Golbus MS, editors. Genetics in Obstetrics and Gynecology. Philadelphia: WB Saunders; 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.PubMed
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.PubMedCrossRef
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.PubMedCrossRef
33.
Foudila T, Söderström-Anttila V, Hovatta O. Turner’s syndrome and pregnancies after oocyte donation. Hum Reprod. 1999;14:532–5.PubMedCrossRef
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.PubMedCrossRef
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.PubMed
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.PubMedCrossRef
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.PubMedCrossRef
38.
Kuo PL, Guo HR. Mechanism of recurrent spontaneous abortions in women with mosaicism of X-chromosome aneuploidies. Fertil Steril. 2004;82:1594–601.PubMedCrossRef
39.
40.
41.
Blumenthal AL, Allanson JE. Turner syndrome in a mother and daughter: r(X) and fertility. Clin Genet. 1997;52:187–91.PubMedCrossRef
42.
Singh DN, Hara S, Foster HW, Grimes EM. Reproductive performance in women with sex chromosome mosaicism. Obstet Gynecol. 1980;55:608–11.PubMed
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.PubMedCrossRef
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.CrossRef
45.
Rodrigues EB, Braga J, Gama M, Guimarães MM. Turner syndrome patients’ ultrasound profile. Gynecol Endocrinol. 2013;29:704–6.PubMedCrossRef
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.PubMedCrossRef
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.PubMedCrossRef
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.PubMedCrossRef
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.PubMedCrossRef
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.PubMedCentralPubMed
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.PubMedCrossRef
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.PubMedCentralPubMed
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.PubMedCentralPubMed
Metadata
Title
Reproductive and obstetric outcomes in mosaic Turner’s Syndrome: a cross-sectional study and review of the literature
Authors
Emek Doğer
Yiğit Çakıroğlu
Yasin Ceylan
Esen Ulak
Özkan Özdamar
Eray Çalışkan
Publication date
01-12-2015
Publisher
BioMed Central
Published in
Reproductive Biology and Endocrinology / Issue 1/2015
Electronic ISSN: 1477-7827
DOI
https://doi.org/10.1186/s12958-015-0055-7

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