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Reproductive and Obstetric Outcomes in Mosaic Turner's Syndrome

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Reproductive and Obstetric Outcomes in Mosaic Turner's Syndrome Doğer et al. Reproductive Biology and Endocrinology (2015) 13:59 DOI 10.1186/s12958-015-0055-7 RESEARCH Open Access Reproductive and obstetric outcomes 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. 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. Keywords: Mosaicisim, Turner’s syndrome, Obstetric outcome, Reproductive outcome Background cardiovascular and renal abnormalities and hearing loss; Turner’s syndrome (TS) is depicted as a total or partial and besides, gonadal dysgenesis in TS results in pubertal absence of one X chromosome, and occurs in approxi- delay or failure, infertility and premature ovarian failure mately 1/2200 of live born females [1]. Nearly 43-49 % (POF) in most patients [7, 8]. Although correlation be- of the patients are cases with classical TS who are tween genotype and phenotype is not well understood, monosomic for X chromosome (45,X). The remaining mosaic cases present milder phenotypic abnormalities patients are mosaic cases carrying normal and abnormal compared to those with 45,X karyotype [9]. Mosaic TS cell lines together (most of them had 45,X/46,XX karyo- patients are more likely to experience normal pubertal type) (15-23 %), those with isochromosome in long arm development, regular menstrual cycles and to conceive of X chromosome (i(Xq)) (14 %), those with ring X spontaneously compared to those with 45,X monosomy chromosome (r(X)) (3-11 %) and those with 46,XX [2]. Since mosaic patients are diagnosed following karyo- karyotype but having partial losses in one X chromo- type analysis due to recurrent pregnancy loss, repeated some (9 %). Y chromosome fragments are detected in in vitro fertilization (IVF) failure and history of an abnor- 10-11 % of the cases [2–6]. mal offspring, our knowledge concerning reproductive Patients with classical TS demonstrate characteristic and obstetric outcomes relies on case reports and case clinical features such as short stature, web neck, series [4, 10–12] and more comprehensive studies investi- gating the fertility outcomes of these patients. The purpose of this study was to evaluate reproductive * Correspondence: [email protected] 1Department of Obstetrics & Gynecology, Kocaeli University School of and obstetric outcomes of natural conception and IVF Medicine, Kocaeli, Turkey procedures in mosaic TS cases. Full list of author information is available at the end of the article © 2015 Doğer et al. 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 Creative Commons Public Domain Dedication waiver (http:// creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated. Doğer et al. Reproductive Biology and Endocrinology (2015) 13:59 Page 2 of 7 Materials and methods Table 1 Clinical characteristics of the study group This retrospective study evaluated 706 female patients Patients age at the time of enrollment (years)a 37 (26–47) – who underwent karyotyping between 2009 2013 in the Patients age at the time of diagnosis (years)a 34.5 (18–46) laboratory of Medical Genetics Department of our Age of menarche (years)a 13 (11–18) tertiary health institution. The approval from the local Age at marriage (years)a 25 (15–40) ethics committee had been obtained prior to the initi- a,b ation of the study. Informed consent from all individual Patients age at first pregnancy (years) 23 (18–32) participants included was obtained. Chromosomal analysis Time from the marriage to the first conception 12 (6–49) a,b was performed by G-banding technique at high resolution. (months) A hundred metaphases were counted for each patient and Height of the patients (cm)a 163 (132–174) International System for Human Cytogenetic Nomenclature Body mass index at the enrollment (kg/m2)c 28.43 ± 1.21 (ISCN, 2009) guidelines were used when performing karyo- aData presented as median and range, bIn the cases who conceived type analysis [13]. spontaneously, c data presented as mean ± standart error Mosaicism ratios of the cases were calculated by propor- tioning total number of abnormal cell lines. In karyotype analysis, mosaic cell line ratio of ≤ %10 was defined as low- continued regularly. Menstruation was regular in 18 grade mosaicism, and > %10 as high-grade mosaicism [14]. cases at the time of study enrollment whereas it was Medical history regarding prior hormone therapy, irregular in the two and the remaining two, who were prior assisted reproductive techniques attempts in infer- diagnosedasPOFattheagesof28and38,wereonhor- tility cases, obstetric outcomes in patients who had con- mone replacement therapy. There was one case with a ceived through spontaneous or IVF cycles and perinatal short stature (<150 cm) phenotype and no cases with outcomes were obtained by face-to-face interview or cardiovascular or renal abnormality, hearing loss and assessment of hospital medical records. All patients were mental retardation among the included patients. The assessed with physical examination and underwent a set following systemic disorders were diagnosed in the of diagnostic tests including thyroid function tests, patients; hypothyroidism in three, type 2 diabetes in abdominal ultrasonography and echocardiography. three, asthma in one and generalized anxiety disorder in one patients. Uterine hypoplasia was observed in one Statistical analysis case. In addition, one patient underwent hysteroscopic SPSS version 15.0 (Statistical Package for Social Science, septum resection for uterine septum, another case Spss Inc. Chicago, IL, USA) was used for statistical ana- underwent Strasmann metroplasty for bicornuat uterus lysis. Parametric variables were given as median (range), and one underwent hysteroscopy and cavity expansion mean ± standard deviation or ± standard error. Chi-square with fundal and lateral incisions for T-shaped uterus. test was used for the comparison of parametric variables. A total of 22 female patients, who were diagnosed as Non-parametric tests such as Mann–Whitney U test was mosaic TS after karyotyping and who attended our IVF used to compare non-parametric variables between cases clinic with the diagnoses of recurrent implantation fail- with high-grade mosaicisim and low-grade mosaicism. ure (n = 10), recurrent pregnancy loss (n = 9), infertility Possibility of a total of 2-year fecundability was calculated due to POF (n = 1), and history of a prior offspring with at 6-month intervals by time-table analysis. The effect of a chromosomal abnormality (n = 2), were included in menarche age, marriage age and mosaicism ratio on the the study. Out of 22 patients, five despite IVF treatment time until spontaneous or IVF pregnancy was assessed by and one who never sought treatment, could not ever Cox-regression analysis. p < 0.05 was considered as statis- conceive. Out of remaining 16 cases, 11 conceived spon- tically significant. taneously and five conceived following IVF cycles; resulting in a total of 52 pregnancies of which 17 Results (32.7%)resultedinlivebirthand35(67.3%)resultedin A total of 22 mosaic TS patients were extracted from abortion. 706 patients who underwent genetic karyotyping for Of 22 mosaic TS patients’ karyotypes, 17 were 45,X/ varying indications including, recurrent implantation 46,XX and five were 45,X/46,XX/47,XXX. There were failure (5.1 %), recurrent pregnancy loss (defined as three no cases including 45,X/46,Xr(X); 45,X/46,X(i(Xq)); Y or more consecutive miscarriage) (2.2 %), POF (2.2 %) chromosome fragment or 46,XX karyotype with struc- and history of an offspring with any chromosomal or tural abnormalities in X chromosome. One patient was structural abnormality (4 %). Clinical characteristics of determined to have 45,X/46,XX inv(9)p11q13 karyotype. our study population were presented in Table 1. Menar- The comparison regarding the number and the percent- che was achieved with hormone replacement therapy in ages of pregnancies, miscarriages and live births between three cases at the ages of 16,17 and 18 years and the different karyotypes of TS were presented in Table 2. Doğer et al. Reproductive Biology and Endocrinology (2015) 13:59 Page 3 of 7 Table 2 Comparison of the ratios of live birth and miscarriage Time table analysis revealed that pregnancy hazard or terminated fetus between groups rate within the first 2 years at 6-month intervals was Maternal karyotype 45,X/46,XX 45,X/46,XX/47,XXX All cases p found to be 0.01 in the first 6 months, 0.04 in the sec- (n = 17) (n =5) (n = 22) ond 6 months, 0.02 in the third 6 months and 0.01 in No of pregnancies (n) 35 17 52 .678 the last 6 months.
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