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Genetic Counseling in Assisted Reproductive Technology
Published in Carlos Simón, Carmen Rubio, Handbook of Genetic Diagnostic Technologies in Reproductive Medicine, 2022
Despite Turner syndrome being a recognized syndrome affecting approximately 1/4,000 female births, less than 1% of embryos with XO are capable of developing to term. Those that do develop to term are likely mosaic (Gersen and Keagle, 2013). Individuals with Turner syndrome have a range of symptoms, including a risk of cardiac and renal defects and infertility. Intelligence is typically normal; however, about 10% require special education (Nussbaum et al., 2004). Women with Turner syndrome frequently are of short stature, have a webbed neck, and premature ovarian failure.
Prenatal Diagnosis and Screening for Aneuploidy
Published in Vincenzo Berghella, Obstetric Evidence Based Guidelines, 2022
Sarah Harris, Angie Jelin, Neeta Vora
Thyroid studies annually; hearing test if otitis and not done before; speech evaluation, if needed; blood pressure checks routinely (hypertension a complication); annual echocardiogram to measure aortic root; annual urinalysis and culture if renal anomaly; use Turner growth curve after 2 years old; monitor diet (calories and calcium); ophthalmology follow-up as indicated; psychological support; individual education plan (IEP) at school if indicated; refer to endocrinologist in infancy, discuss growth hormone (GH) and hormone replacement therapy (HRT): GH treatment can improve growth and influence a girl’s final adult height. HRT helps the girl with Turner syndrome develop the physical changes of puberty. In vitro fertilization can make it possible for some women with Turner syndrome to become pregnant using a donor egg. It is important to discuss at what age to inform the child of her diagnosis and its implications.
Basic genetics and patterns of inheritance
Published in Hung N. Winn, Frank A. Chervenak, Roberto Romero, Clinical Maternal-Fetal Medicine Online, 2021
Features of Turner syndrome detectable by ultrasound include cystic hygroma, lymphedema, or hydrops fetalis; when these abnormalities are seen, the prognosis for survival of the pregnancy is poor (22). Smaller cystic hygromas may resolve during pregnancy, leaving a webbed neck or excess nuchal skin. Other anomalies seen in Turner syndrome include congenital heart defects, frequently coarctation of the aorta, and renal anomalies, often horseshoe kidney. Lymphedema may be seen at birth, often involving the dorsum of the hands and feet, as well as a shield-shaped chest and wide-spaced nipples. For surviving girls with Turner syndrome, the prognosis for good health and a normal lifespan is excellent. Intelligence is normal, although there may be some specific learning disabilities. However, due to the “streak” ovaries, puberty and the onset of menses will not usually occur without hormone therapy and the average adult height without growth hormone treatment is 57 inches. The long-term outcome with estrogen/progesterone replacement and growth hormone therapy is very good. A number of successful pregnancies in women with Turner syndrome have been reported, with the use of ovum donation and in vitro fertilization techniques (23).
Combined X-linked familial exudative vitreoretinopathy and retinopathy of prematurity phenotype in an infant with mosaic turner syndrome with ring X chromosome
Published in Ophthalmic Genetics, 2023
Sandra Hoyek, Marlene Wang, Audina M. Berrocal, Ashley Wong, Emily M. Place, Heather Mason-Suares, Angela E. Lin, Shizuo Mukai, Nimesh A. Patel
There were no disease-causing sequence variants in the genes analyzed, although a heterozygous variant of uncertain significance in the autosomal recessive gene P3H2 (c.385 G>T, p.(Gly129Trp)) was detected. The targeted NGS gene panel results did, however, detect mosaic possible monosomy X and ring X, which is associated with Turner syndrome. NGS read data suggested approximately 46% of cells had a missing X chromosome, and approximately 54% of cells had 1 to 2 copies of the estimated genomic region of chrX: 46513221–117959147, consistent with mosaicism involving a ring X chromosome with breakpoints at Xp11.23 and Xq24. The estimated genomic region deleted in the presumed ring X encompassed two genes associated with inherited vitreoretinopathies, NDP and RS1. Subsequent chromosome analysis by karyotype on peripheral blood sample detected 45,X in eight out of 20 cells (40%) and a 46,X,r(X) in 12 out of 20 (60%) cells (Figure 2). Furthermore, chromosomal microarray analysis refined the breakpoints, demonstrating that the mosaic ring X chromosome is composed of material from band p11.23 to band q23, including the X-inactive specific transcript (XIST) gene. The size of the ring X is approximately 69.8 Mb, which we estimate to be a medium-to-large sized ring. Thus, chromosome analysis and microarray testing confirmed the diagnosis of mosaic Turner syndrome.
Prevalence and development of aortic dilation and dissection in women with Turner syndrome: a systematic review and meta-analysis
Published in Expert Review of Cardiovascular Therapy, 2023
F. Meccanici, J.W.C. de Bruijn, J.S. Dommisse, J.J.M. Takkenberg, A.E. van den Bosch, J. W. Roos-Hesselink
Turner syndrome (TS) affects women with either an absent or incomplete X-chromosome. The incidence of TS among live-born females is approximately 1:2500 [1,2]. Some typical features include short stature, gonadal dysgenesis, and cardiovascular disease [3]. Common congenital cardiac defects include bicuspid aortic valve (BAV), aortic coarctation (COA), abnormal pulmonary venous return, aortic dilatation, and dissection [4–6]. Alarming case reports published on aortic dissection in women with TS at the end of the 20th century [7–10] led to more awareness and research on aortic disease in this patient group. As a result, the guidelines now recommend lifelong close monitoring of women with TS to prevent aortic complications [11]. However, there might be a bias in the published literature, especially on the topic of aortic dissection. Most studies concern case reports or retrospective series, highlighting the patients with an event, thus the exact burden of aortic disease in women with TS is unclear.
A bibliometric analysis of primary ovarian insufficiency from 2010 to 2020
Published in Climacteric, 2022
Z.-H. Deng, H.-J. Tan, L. Wang, P.-P. Long, D. Guo, R.-P. Quan, M.-H. Zeng, H.-W. Deng, H.-M. Xiao
Mutation in the FMR1 gene is associated with Fragile X syndrome, in which patients are more likely to suffer from POI. Turner syndrome is a rare condition in women that is associated with either complete or partial loss of one X chromosome. Typical clinical manifestations include ovarian dysgenesis, hypogonadotropic hypogonadism and infertility [20]. In addition to cancer patients, fertility preservation techniques may also be used in patients with Turner syndrome and Fragile X syndrome. Unfortunately, most of the data on fertility preservation available in the literature concern cancer patients while patients with syndromic POI present a particular complexity due to other co-presence symptoms. Fertility preservation in these patients should be treated accurately and individually [21].