Reproductive Issues in Women with Turner Syndrome

Folsom, Lisal J.; Fuqua, John S.

doi:10.1016/j.ecl.2015.07.004

Cited by 41 publications

(29 citation statements)

References 48 publications

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“…The specific comorbidities for women with Turner syndrome such as infertility, cardiac malformations, bone dysgenesis, and autoimmune diseases may depend on a complex relationship between genes as well as transcriptional and epigenetic factors affecting gene expression across the genome [19]. Risks during pregnancy include aortic disorders, hepatic disease, thyroid disease, type 2 diabetes, and cesarean section delivery [3]. Mosaic X chromosome may have various effects according to different karyotype.…”

Section: Genetic Consultmentioning

confidence: 99%

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IVF and ICSI outcomes of female patients with X chromosome mosaicism: A 5-year retrospective cohort study

Liang

Yang

et al. 2020

Preprint

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BackgroundThis study focused on the assisted reproductive treatment (ART) outcomes of female patients with X chromosome mosaicism (XM), who underwent their first IVF/ICSI and day 2 or day3 fresh embryo transfer, and the possible impacts of the different mosaic types.Results78 couples with XM female and normal male were included as the X group. 78 couples with normal karyotype were included as the control group. Subgroup X1 included 41 45,X/46,XX cases, Subgroup X2 included 23 47,XXX/46,XX cases, and Subgroup X3 included 13 45,X/47,XXX/46,XX cases. With similar female age and similar body mass index (BMI), the X group had higher total gonadotropin (Gn) dosage than the control group (1800 IU VS 1612 IU). In subgroup analysis, the follical number during oocyte retrieval was less in subgroup X1 than that in X2 or X3. The fertilization rate was lower in subgroup X1 than that in subgroup X2. The utilization rate was higher in subgroup X2 than that in subgroup X3. The implantation rate, clinical pregnancy rate, and miscarriage rate before 12 weeks' gestation were similar in all groups.ConclusionsFemale with 45,X cell line may face higher Gn dosage, less follical number during oocyte retrieval and fewer embryos. But female with X chromosome mosaicism may have similar clinical pregnancy rate and miscarriage rate after fresh embryo transfer.

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Section: Genetic Consultmentioning

confidence: 99%

“…Aneuploidy, structure variation and mosaicism can be detected [1,2]. Double X chromosomes are essential for female [3][4][5]. Karyotype of infertile female patient could be 46,XX , 45,X , 47,XXX or mosaic type of these [6].…”

Section: Introductionmentioning

confidence: 99%

IVF and ICSI outcomes of female patients with X chromosome mosaicism: A 5-year retrospective cohort study

Liang

Yang

et al. 2020

Preprint

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“…Hypergonadotrophic hypogonadism in Turner syndrome means that pregnancy is often difficult to achieve spontaneously, but women may opt for in vitro fertilisation with donor eggs. However, pregnancy in women with Turner syndrome is considered high risk, predominantly due to the increased risk of cardiac complications 12 .…”

Section: Funding Nonementioning

confidence: 99%

Mosaic Turner syndrome shows reduced phenotypic penetrance in an adult population study compared to clinically ascertained cases

et al. 2017

Preprint

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Women with X chromosome aneuploidy such as 45,X (Turner syndrome) or 47,XXX (Triple X syndrome) present with a range of characteristics including differences in stature, an increased risk of cardiovascular disease and premature ovarian insufficiency. Many women with X chromosome aneuploidy undergo lifetime clinical monitoring for possible complications. However, biased ascertainment of cases may mean that the penetrance of phenotypes is overestimated. We aimed to characterise the prevalence and phenotypic consequences of X chromosome aneuploidy in a large population of older adults. We detected 30 women with 45,X, 186 with mosaic 45,X/46,XX and 110 with 47,XXX in 245,203 women from UK Biobank, using SNP array data. The phenotypic features of women with full aneuploidy (whether 45,X or 47,XXX) were similar to those previously reported.Consistent with the recognised Turner syndrome phenotype, those with 45,X were 17.2cmshorter than controls and 53% did not go through menarche. Similarly, the phenotype of women with 47,XXX included increased height (on average 5.3cm taller than controls, P = 1 . CC-BY-NC-ND 4.0 International license not peer-reviewed) is the author/funder. It is made available under aThe copyright holder for this preprint (which was . http://dx.doi.org/10.1101/177659 doi: bioRxiv preprint first posted online Aug. 18, 2017; x 10 -18 ), earlier menopause age (on average 5.12 years earlier than controls, P = 1.2 x 10 -14 )and a lower fluid intelligence (on average 24% lower than controls, P = 3.7 x 10 -8 ). In contrast, women with 45,X/46,XX mosaicism had a very mild phenotype; were not as short, had a normal reproductive lifespan and birth rate, with no reported cardiovascular complications. This study characterises X chromosome aneuploidy phenotypes in an adult population-based sample of older individuals and suggests that clinical management of women with a 45,X/46,XX mosaic karyotype should be minimal, particularly those identified incidentally.

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“…Turner syndrome (TS) is the commonest sex chromosome abnormality in females, affecting approximately 3% of all females conceived. Lower prevalence of live‐born infants with TS is attributed to high rates of spontaneous miscarriage in up to 15%, with only 1% of complete TS 45,XO surviving to term …”

Section: Introductionmentioning

confidence: 99%

“…The genetic disorder is characterised by short stature, premature ovarian failure and cardiac abnormalities . While signs are less frequent and often milder in the mosaic subtype, which occurs in up to 91.7% of ultrasound (US) positive TS diagnosis, mortality increases threefold compared to the general population and requires close monitoring and management of multi‐organ complications . Both complete and mosaic karyotypes have the potential for normal intellect and have a large spectrum of functionality, presenting a management dilemma in antenatal diagnosis .…”

Section: Introductionmentioning

confidence: 99%

Turner syndrome – The clinical spectrum and management dilemmas

Thayalan

Chung

Kothari

2018

Australas J Ultrason Med

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Introduction: Turner syndrome (TS) is a common sex chromosome disorder, with a varied clinical spectrum and prognosis. It may range from the complete phenotype of TS characterised by short stature, ovarian failure, cardiac and renal abnormalities, with milder variants often associated with mosaic TS. Materials and Methods: We describe five cases of TS. Results: In case 1, complete TS was identified by first-trimester screening with a grossly oedematous fetus at 11 weeks of gestation and underwent medical termination of pregnancy due to the dismal prognosis. In case 2, a hydropic fetus and large cystic hygromas were identified at routine second-trimester morphology scan. Intra-uterine fetal death was identified at 22 weeks of gestation and formal karyotype confirmed complete TS. Case 3 demonstrates the potential for a successful live birth of mosaic TS with mild neurocognitive and renal abnormalities. Case 4 demonstrates the ability for TS to go undetected until adolescence where the patient was diagnosed at 15 years of age during investigations for severe anaemia, identified as secondary to critical aortic stenosis and Heyde's syndrome. Case 5 highlights the potential for patients with TS to reproduce with assisted reproductive technology. Discussion: These cases explore the prognostic spectrum of TS and highlight that they have a potential to lead productive and fulfilling lives. Conclusion: Consequently, a multimodal risk stratification approach to prognostic counselling should be under-taken with consideration of pertinent history, major sonographic abnormalities, maternal serum testing and invasive testing.

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Reproductive Issues in Women with Turner Syndrome

Cited by 41 publications

References 48 publications

IVF and ICSI outcomes of female patients with X chromosome mosaicism: A 5-year retrospective cohort study

IVF and ICSI outcomes of female patients with X chromosome mosaicism: A 5-year retrospective cohort study

Mosaic Turner syndrome shows reduced phenotypic penetrance in an adult population study compared to clinically ascertained cases

Turner syndrome – The clinical spectrum and management dilemmas

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