The mosaic Turner syndrome is one of the more moderate types of the disorder. Besides, it was reported that abnormal karyotype ratio was increased from 42.9 % up to 73.7 % in abortion samples in the presence of diminished ovarian reserve [38]. A deletion can be inherited from a … Disorders of sex chromosomes and sexual differentiation. Hagman A, Loft A, Wennerholm UB, Pinborg A, Bergh C, Aittomäki K, et al. Nearly 43-49 % of the patients are cases with classical TS who are monosomic for X chromosome (45,X). Obata S, Tsuburai T, Shindo R, Aoki S, Miyagi E, Sakakibara H. Clin Pediatr Endocrinol. 3 In approximately 50% of the cases, the affected individuals have a 45,X karyotype, whereas the others display various abnormalities of one of their sex chromosomes or may be mosaic. https://doi.org/10.1186/s12958-015-0055-7, DOI: https://doi.org/10.1186/s12958-015-0055-7. Furthermore, cumulus cells and her elbow skin cells were Scholtes MC, Behrend C, Dietzel-Dahmen J, van Hoogstraten DG, Marx K, Wohlers S, et al. 6:20 . Birkebaek NH, Crüger D, Hansen J, Nielsen J, Bruun-Petersen G. Fertility and pregnancy outcome in Danish women with Turner syndrome. In addition, the chance of spontaneous conceiving in women with TS was reported as 2-10 %, most of which are the cases of mosaic pattern and those with 45,X monosomy are candidates for oocyte donation [16, 21, 22]. More information is needed to care for women or girls with TS or Mosaic TS. They provided extra sonograms and visits to check on all levels, from my thyroid to glucose levels, which was very helpful. Turner syndrome may be suspected in pregnancy during a routine ultrasound scan if, for example, heart or kidney abnormalities are detected. Hum Reprod. Pregnancy rate and outcome in Swedish women with Turner syndrome. Introduction. Simpson JL. Birkebaek et al. Uterine hypoplasia was observed in one case. Hum Genet. 2019 Jun 20;2019(3):hoz016. In our study, first two-year fecundability analyses revealed that 5 % of the cases experienced their first pregnancy within 6 months and 8 % within first 2 years. 2012 May;9 Suppl 2:713-7. Clin Genet. Ovarian function and in vitro fertilization (IVF) in Turner syndrome. Assisted conception techniques, such as egg donation and in vitro fertilisation (IVF), may be recommended for women with Turner syndrome who want to have children. Hum Genet. Female child born with Mosaic Turner Syndrome is rare and that about 1 in 2,500 girl child birth. It's important to get a prompt, accurate diagnosis and appropriate care. Informed consent from all individual participants included was obtained. doi: 10.1093/hropen/hoz016. Bryman I, Sylvén L, Berntorp K, Innala E, Bergström I, Hanson C, et al. Chromosomal aberrations in couples undergoing intracytoplasmic sperm injection: influence on implantation and ongoing pregnancy rates. RPC Turner syndrome and pregnancy – April 2009 - Page 3 Work-up before pregnancy A work-up should be done in every patient who wishes to become pregnant, whatever her karyotype (mosaic or 45 X), and whether pregnancy is sought naturally (if ovarian function is conserved, as it generally is in patients with a mosaic The comparison regarding the number and the percentages of pregnancies, miscarriages and live births between the different karyotypes of TS were presented in Table 2. Hum Reprod. Most instances of Turner syndrome are not inherited. Yuge A, Takai N, Nishida Y, Narahara H, Miyakawa I. Spontaneous pregnancy in a 45, X/46, X, r (X) Turner’s mosaic patient. 19 is very late to start growth hormones so they possibly would not have worked for you anyway. It is therefore important that women with TS receive appropriate preconception counseling, thorough medical assessment, and cardiological input during pregnancy. Cerebral paresis, neuropsychological disorder, aortic coarctation, cleft lip and palate and congenital tumor were detected in 5 (7 %) of 68 children born to women with TS [32]. Our aim is to evaluate reproductive and obstetric outcomes of natural conception and in-vitro fertilization (IVF) cycles in mosaic TS patients. In addition, it is obvious that it is difficult to conduct such a study in this issue in a prospective fashion. It's vital her womb is healthy and has developed fully … Oocyte donation is now a treatment option for infertility of these women. Chromosomal mosaicism mitigates stigmata and cardiovascular risk factors in Turner syndrome. Uterine hypoplasia and related reduced uterine perfusion secondary to significant changes in utero-ovarian vascular anatomy, and subclinical uterine abnormalities in TS cases have been implicated in the etiology of miscarriages [33, 38, 43]. [Turner's syndrome and procreation. Hum Reprod Update. eCollection 2018. The mosaic Turner syndrome is one of the more moderate types of the disorder. Approximately 60% of cases have complete loss of one X chromosome, and the remainder have either mosaicism with an abnormal X chromosome or a structural abnormality in one of the X chromosomes. http://www.hips.hacettepe.edu.tr/eng/tdhs08/ar.shtml, http://creativecommons.org/licenses/by/4.0, http://creativecommons.org/publicdomain/zero/1.0/, https://doi.org/10.1186/s12958-015-0055-7. My Labor And Delivery Story + Meet My Baby | High Risk Pregnancy - … This condition can be suggested as the evidence of the effect of diminished endometrial receptivity as well as oocyte-associated factors in TS cases. Although correlation between genotype and phenotype is not well understood, mosaic cases present milder phenotypic abnormalities compared to those with 45,X karyotype [9]. who affirmed a pregnancy induced hypertension and gestational diabetes rate of 5 % in TS cases, similar to the rate in general population [32, 47, 48]. 1999;31:106–10. El-Mansoury M, Barrenäs ML, Bryman I, Hanson C, Larsson C, Wilhelmsen L, et al. 1990;29:81–7. 2002;39:217–20. a particularly short, wide neck (webbed neck) Oestradiol was given stepwise in many patients, and the dose of progesterone was only half of that used in our survey. However karyotyping was performed for nine cases in our study group due to recurrent pregnancy loss. 90.4 % of the pregnancies (n = 47) (88.2 % of live born babies (n = 15)) have occurred in spontaneous cycles. showed a correlation between mosaicism and a low implantation rate [31]. 2019 Dec 11;9(12):e030855. 2008 Sep;36(9):891-7. doi: 10.1016/j.gyobfe.2008.06.021. Turner syndrome, also referred to as congenital ovarian hypoplasia syndrome, ... this is because some mothers carrying fetuses with Turner syndrome choose to terminate the pregnancy. Brooke TV 3,566 views. USA.gov. Furthermore, cumulus cells and her elbow skin cells were evaluated via FISH. Prenatal or postnatal cytogenetic examination was performed in three pregnancies, two as prenatal and one as postnatal investigations. Although cases in our study were younger than 46 years old, mosaicism ratio in some cases, whose pregnancy age was young but diagnosis age was advanced, may not reflect exact karyotype profile. 2011;95:2507–10. Diagnosis of Turner's syndrome may be … Oocyte donation is now a treatment option for infertility of these women. There was one case with a short stature (<150 cm) phenotype and no cases with cardiovascular or renal abnormality, hearing loss and mental retardation among the included patients. 2008 Oct;36(10):1030-4. doi: 10.1016/j.gyobfe.2008.07.011. Turner’s syndrome and fertility: current status and possible putative prospects. Mosaicism ratios of the cases were calculated by proportioning total number of abnormal cell lines. Research goals at MGHfC. The children born following oocyte donation have no additional risks. Although Turner syndrome is most commonly associated with a 45,X genotype, other mosaic genotypes are present in approximately half of all cases. In: Simpson JL, Golbus MS, editors. Women with TS face higher obstetric and neonatal risks in pregnancy, and pregnancy may be contraindicated for some. Hum Reprod. Turner syndrome (TS) is the most common form of sex chromosome aneuploidy in women. I have been married for a little over 2 years. An ear, nose and throat specialist may also be consulted for any hearing irregularities. 1998;70:933–7. Nature. Privacy It will be more likely if you have had spontaneous menstruations or if you have a mosaic Turner syndrome (when some cells have one X chromosome and two other X chromosomes). 1998;13:576–82. J Assist Reprod Genet2004; 21 : 229Ð230. Pregnancies in women with TS, conceived with either autologous or donated oocytes, are considered high risk because of the associated miscarriages and life-threatening card … Article  COVID-19 is an emerging, rapidly evolving situation. While 23 cases had a spontaneous pregnancy, three cases conceived by assisted reproductive technologies [32]. This condition occurs with a similar frequency in all populations. Moreover, in the study by Hanson et al. Three of six pregnancies of Turner's syndrome … The comparison regarding the number and the percentages of pregnancies, miscarriages and live births between high-grade and low-grade mosaicism cases were presented in Table 3. percentage of cases with mosaic karyotype was found to be 45 % only with karyotyping but it reached to 70 % when FISH was used [3]. 2009 Jul;25(7):460-3. doi: 10.1080/09513590902898247. PubMed Google Scholar. Successful pregnancy outcomes have occurred in patients with 45,X/46,XY mosaicism as well as 46,XY gonadal dysgenesis following oocyte donation and in vitro fertilization, although most of the reported cases were delivered by cesarean section [ 9 – 13 A total of 22 mosaic TS patients were extracted from 706 patients who underwent genetic karyotyping for varying indications including, recurrent implantation failure (5.1 %), recurrent pregnancy loss (defined as three or more consecutive miscarriage) (2.2 %), POF (2.2 %) and history of an offspring with any chromosomal or structural abnormality (4 %). Time to consider ovarian tissue cryopreservation for girls with Turner's syndrome: an opinion paper. Therefore, hormone replacement therapy (HRT) is necessary to achieve the development of normal female sexual characteristics and to prevent cardiovascular complications and osteoporosis. Genetic analysis of mosaicism in 53 women with Turner syndrome. Emek Doğer. Thus, it is possible that puberty and reproductive capacities are less affected or even preserved in TS cases with mosaic karyotype [19]. Ovarian function and in vitro fertilization (IVF) in Turner syndrome. Early end to menstrual cycles not due to pregnancy; For most women with Turner syndrome, inability to conceive a child without fertility treatment; When to see a doctor. Majority of TS cases who conceive spontaneously are known to have mosaic cell lines. Pienkowski C, Menendez M, Cartault A, Lorenzini F, Lesourd F, Tauber M. Gynecol Obstet Fertil. The authors also state that they have had full control of all primary data and that they agree to allow the Journal to review their data if requested. I have mosaic turners syndrome which basically means ina e low AMH, thyroid issues and it’s rare I’ll get pregnant on my own, as well as the fact that IVF might not even be an option, and we’ll a bunch of other mumbo jumbo meaning I can’t carry a baby of my own. Phenotypic effects of mosaicism for a 47, XXX cell line in Turner syndrome. National Center for Biotechnology Information, Unable to load your collection due to an error, Unable to load your delegates due to an error. Chromosomal analysis was performed by G-banding technique at high resolution. Ovarian tissue from young girls with Turner's syndrome could be cryopreserved for infertility treatment in the future, but the optimal age of ovarian biopsy has to be studied, and methods of replantation and maturation of oocytes in vitro have still to be developed. We describe a case of Turner syndrome with a 46,XY genotype by conventional 5-cell karyotype who was subsequently found to have a mosaic genotype of 18% 45,X and 82% 46,XY by 50-cell FISH analysis. Brooke TV 3,566 views. Mosaic TS patients are more likely to experience normal pubertal development, regular menstrual cycles and to conceive spontaneously compared to those with 45,X monosomy [2]. detected chromosomal aberrations in 6 of 25 pregnancies who underwent prenatal or postnatal cytogenetic analysis among TS cases with classical and mosaic forms [4]. 1980;55:608–11. Individuals with a mosaic 45,X/46,XY genotype have a variety of phenotypic presentations ranging from male to female which are not correlated with the perce… NLM All patients with Turner syndrome should be carefully monitored before and during their pregnancy, according to the American or the European recommendations (Bondy, 2007; Cabanes et al., 2010). Turner's syndrome can be transmitted from mothers to daughters (Varela et al., 1991; Verschragen-Spae et al., 1992; Blumenthal and Allanson, 1997; Tarani et al., 1998). Infertility can be a distressing part of Turner syndrome. Firstly, the sex chromosome can be … International consensus: ovarian tissue cryopreservation in young Turner syndrome patients: outcomes of an ethical Delphi study including 55 experts from 16 different countries. Epub 2008 Sep 23. Approach to the patient with Turner syndrome. Chromosomal abnormalities in couples with recurrent first trimester abortions. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The pregnancies carry high risks and have to be followed up carefully. Women with Turner syndrome currently have limited reproductive options. TurnerFertility trial: PROTOCOL for an observational cohort study to describe the efficacy of ovarian tissue cryopreservation for fertility preservation in females with Turner syndrome. 1963;197:1080–1. The effect of menarche age, marriage age and mosaicism ratio on the time until spontaneous or IVF pregnancy was assessed by Cox-regression analysis. The postnatal investigation was of a patient who underwent karyotype analysis at the age of 15 due to mental retardation and a deletion was detected between the regions of 18q21.3 and q23. 1999;14:532–5. Sexually active young women with Turner's syndrome … Out of remaining 16 cases, 11 conceived spontaneously and five conceived following IVF cycles; resulting in a total of 52 pregnancies of which 17 (32.7 %) resulted in live birth and 35 (67.3 %) resulted in abortion. Natural conception can occur in up to 8% of women with TS. 10 Cools M, Rooman RP, Wauters J, Jacqemyn Y, Du Caju MV. Preimplantation genetic diagnosis (PGD) may improve the chance of conceiving in patients with recurrent ART failure and TS (12). 2012;9 Suppl 2:713–7. Foudila T, Söderström-Anttila V, Hovatta O. Turner’s syndrome and pregnancies after oocyte donation. Implantation rate per cycle was 3.7 % (3/82), clinical pregnancy rate was 8.6 % (3/35) and take home baby rate was 5.7 % (2/35). These results suggest that the rate of uterine abnormalities in TS cases is high and that they may benefit from the surgery. With the expectation of reduction in ovarian reserve with advanced age in TS, our results revealed that chance of fertility in cases with mosaic karyotype was high at younger ages but their chance will decrease if they do not conveive within the first 2 years. Here, we report a fetus with a mosaic karyotype: mos 45,X/46,X,del(Y)(q11.21). - Duration: 6:20. Mosaic Turner Syndrome. Between 5% and 10% of those born with Turner syndrome have coarctation of the aorta, a congenital narrowing of the descending aorta, usually just distal to the origin of the left subclavian artery (the artery that branches off the arch of the aorta to the left arm) and … CAS  No required minimum percentage of abnormal cells has been established to define true versus “low-grade” mosaicism. Epub 2008 Aug 15. However, pregnancy can be especially risky for some patients with TS, such as those who have heart conditions. Risks can be reduced by transferring only one embryo at a time to the uterus, thus avoiding twin pregnancies. Hanson L, Bryman I, Barrenäs ML, Janson PO, Wahlström J, Albertson-Wikland K, et al. Department of Obstetrics & Gynecology, Kocaeli University School of Medicine, Kocaeli, Turkey, Emek Doğer, Yiğit Çakıroğlu, Yasin Ceylan & Eray Çalışkan, Department of Medical Genetics, Kocaeli University School of Medicine, Kocaeli, Turkey, Department of Obstetrics & Gynecology, Golcuk Military Hospital, Kocaeli, Turkey, You can also search for this author in mosaic Turner’s Syndrome: a cross-sectional study and review of the literature Emek Doğer1*,Yiğit Çakıroğlu1, Yasin Ceylan1, Esen Ulak2, Özkan Özdamar3 and Eray Çalışkan1 Abstract Background: Turner’s syndrome (TS) is depicted as a total or partial absence of one X chromosome that results in ovarian dysgenesis. These rates are close to those reported by Bryman et al. However, there is a small percentage of women (about 5%) who will be able to achieve natural gestations. Mosaic cell line ratio was below 10 % in 17 and above 10 % in five cases. Risks can be reduced by transferring only one embryo at a time to the uterus, thus avoiding twin pregnancies. In a current pregnancy, an ultrasound may reveal markers for the condition, but diagnosis can only be confirmed with genetic testing such as amniocentesis or chorionic villus sampling (CVS). Turner Syndrome was discovered in 1938 by Dr. Henry. 2012;17:129–33. Out of 22 patients, five despite IVF treatment and one who never sought treatment, could not ever conceive. 2013;28:1598–609. Google Scholar. Fecundability analysis revealed that 5 % of the cases experienced first pregnancy within 6 months and 8 % within the first 2 years. 2001;16:82–90. Turner syndrome patients’ ultrasound profile. A significant correlation was reported between maternal age and incidence of 45,X cell after 51 years old, and incidence of 45,X cell was reported to be 3.2-5.1 % among the women older than this age [52, 54]. Google Scholar. 2009;94:74–80. 1998;12:83–7. Bouchlariotou S, Tsikouras P, Dimitraki M, Athanasiadis A, Papoulidis I, Maroulis G, et al. This site needs JavaScript to work properly. Hum Reprod. POF is another frequent clinical feature of TS and mean age of menopause was reported to be 29.3 years [18]. Late-Onset Puberty Induction by Transdermal Estrogen in Turner Syndrome Girls-A Longitudinal Study. doi: 10.1136/bmjopen-2019-030855. Hum Reprod. There are a few cases where women with turner syndrome do fall pregnant naturally but it is very rare. There were no cases including 45,X/46,Xr(X); 45,X/46,X(i(Xq)); Y chromosome fragment or 46,XX karyotype with structural abnormalities in X chromosome. 2004 Jun 12;148(24):1208-10. Classic turner syndrome all the cells have the missing X. We describe a successful pregnancy outcome in a patient with non-mosaic Turner syndrome (45, X) via in vitro fertilization. Kuo et al. This hormone, along with progesterone, is given to start breast development and induce monthly periods. Aborted fetuses of TS women or their live born children are more susceptible to trisomy 21 (4 % vs 0.4 %, respectively) and TS (15 % vs 0.5 %, respectively) risks compared to general population [10]. 2014;27:274–7. 1996;65:1249–52. Nielsen J, Wohlert M. Chromosome abnormalities found among 34,910 newborn children: results from a 13-year incidence study in Arhus Denmark. At around the age of puberty, girls may undergo estrogen replacement therapy. Terms and Conditions, Guttenbach M, Koschorz B, Bernthaler U, Grimm T, Schmid M. Sex chromosome loss and aging: in situ hybridization studies on human interphase nuclei. Comprehensive medical treatment of women with Turner syndrome may improve pregnancy outcomes: A case report. Eur J Obstet Gynecol Reprod Biol. The children born following oocyte donation have no additional risks. Fortunately, there are fertility treatments available to help increase your chances of having a baby. 1985;37:973–83. Turner syndrome (TS) is the most common sex chromosome disorder with an incidence of 1/2500 live-born females. have reported miscarriage rate as 68.6 % in patients with diminished ovarian reserve and 44.1 % in patients without diminished ovarian reserve among cases who had a history of prior recurrent spontaneous abortions with X chromosome mosaicism [38]. In our study fetal karyotype analysis was not performed in all pregnancies terminated by abortion, hence the exact abnormality rates cannot be predicted however it seems likely to be higher. Most instances of Turner syndrome are not inherited. TURNER SYNDROME: MOSAIC VS CLASSIC? For the vast majority of such women, being an egg recipient is the only way to become pregnant (Appendix VII lists the accredited centres). In TS patients who conceived, only 5.7 % take home baby whereas 67.3 % abort. So it's important to … of Turner syndrome. Turner syndrome (TS) affects 1 in 2000 to 1 in 2500 of live-born female infants.1, 2 Although it is considered to be due to the complete loss of the second X chromosome, most patients bear a mosaicism, such as 45,X/46,XX, 45,X/47,XXX or 45,X/46,XY. Type and frequency of chromosome aberrations in 781 couples undergoing intracytoplasmic sperm injection. Article  Ovarian failure is a typical feature in Turner's syndrome. Gynecol Endocrinol. Scholtes et al. This research received no specific grant from any funding agency in the public, commercial or not-for-profit sectors. 2008 Turkey Demographic and Health Survey TDHS-2008; main report: 98. http://www.hips.hacettepe.edu.tr/eng/tdhs08/ar.shtml. Moreover, Kuo et al. 2007;66:744–51. Blumenthal AL, Allanson JE. Chromosomal factors of infertility in candidate couples for ICSI: an equal risk of constitutional aberrations in women and men. 2005;20:1418–21. Based on the liveborn frequency of 45,X (also called Turner syndrome) of 1-2/10,000, it is estimated that less than 1% of 45,X conceptuses will survive to term. Excellent results have been obtained with 46% of embryo transfers resulting in pregnancy. 91 Case reports, 6 but no controlled studies to date, suggest that pregnancy may increase the AoD risk in TS. In 2% of women, spontaneous pregnancy can occur. Clinical characteristics of our study population were presented in Table 1. Before conception, check-ups should include cardiovascular examination as well as ambulatory blood pressure monitoring, two-dimensional transthoracic ultrasound with colour Doppler imaging, and when available magnetic resonance angiography of the heart and aorta. Prevention of preeclampsia with low-dose aspirin in healthy, nulliparous pregnant women. No pregnancy was detected after 60 months of marriage. Tarani L, Lampariello S, Raguso G, Colloridi F, Pucarelli I, Pasquino AM, et al. Treatment for mosaic Turner syndrome is primarily centered on hormone therapy, including the regular administration of somatropin, or human growth hormone, and estrogen. Gonçalves RO, Santos WV, Sarno M, Cerqueira BA, Gonçalves MS, Costa OL. Among our patients, 67.3 % of the pregnancies were resulted in abortion or termination. Article  A hundred metaphases were counted for each patient and International System for Human Cytogenetic Nomenclature (ISCN, 2009) guidelines were used when performing karyotype analysis [13]. 2001;16:1648–52. (1997). In our study, we found the ratio of Mullerian abnormality in all mosaic TS cases as 13.6 % and all pregnancies had terminated with abortions before the surgical corrections of the malformations. Google Scholar. J Pediatr Adolesc Gynecol. Only a small proportion of the mosaic TS patients conceive in the first 2 years of the marriage. There were no significant difference between high-grade and low-grade mosaicism cases in terms of pregnancy, time-to-first spontaneous pregnancy, abortion and take home baby rates in our study. PubMed  Shaffer LG, Slovak ML, Campbell LJ. Ann Med. Gonadal dysgenesis in women with Turner Syndrome might depend on chromosome pairing failure during meiotic prophase, causing failure in synaptic formation at the zygotene and oocyte loss [15]. Majority of germ cells, which trigger spontaneous puberty in 10-30 % and provide pubertal development, start to diminish in the third month of intrauterine life, resulting in only 5-10 % of affected patients could menstruate regularly [16–19]. Dyke DL, Tilley BC, Jacobsen G, Babu WR, Worsham MJ, et al Shindo,... Therapy does not significantly affect treatment outcome used to compare non-parametric variables between cases ring. Complications, pregnancy can be administered as contraceptive pills, which was helpful. 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