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Introduction Aortic abnormalities contribute to increased morbidity and mortality of women with Turner syndrome ( TS). Impaired aortic stiffness may prove to have clinical prognostic value in TS as is the case in other diseases such as Marfan syndrome, diabetes and hypertension. Additionally, the parental origin of the X chromosome in TS may influence aortic stiffness. Objective To assess the relation between X chromosome parental origin and aortic stiffness in TS patients. Methods Twenty-four subjects with TS participated in this cross-sectional study at a tertiary care centre. The parental origin of the X chromosome was determined. Cardiac-gated multidetector computerized tomography ( MDCT) was performed and distensibility of the ascending aorta ( AA), a measure of aortic stiffness, was calculated. Results Fourteen women were Xm (maternal origin) and 10 were Xp (paternal origin) for their inheritance of the single X chromosome. Age, body size, blood pressure and AA areas were similar in the two groups. However, the calculated AA distensibility was significantly lower in the Xm group (2·8 ± 1·1 mm/Hg) than in the Xp group (4·1 ± 1·5 mm/Hg); P < 0·05. Conclusion This study demonstrates that TS subjects that inherit their single X chromosome from their mother (Xm) have a significantly stiffer aorta compared with the TS with a paternally originating X chromosome (Xp), consistent with a potentially greater risk for cardiovascular complications. These findings suggest that parental chromosomal analysis and aortic stiffness measurements would be useful for the risk assessment and clinical management of TS patients. [ABSTRACT FROM AUTHOR]

Background Congenital heart disease (CHD) is a cardinal feature of X chromosome monosomy, or Turner syndrome (TS). Haploinsufficiency for gene(s) located on Xp have been implicated in the short stature characteristic of the syndrome, but the chromosomal region related to the CHD phenotype has not been established. Design We used cardiac MRI to diagnose cardiovascular abnormalities in four non-mosaic karyotype groups based on 50-metaphase analyses: 45,X (n=152); 46,X,del(Xp) (n=15); 46,X,del(Xq) (n=4); and 46,X,i(Xq) (n=14) from peripheral blood cells. Results Bicuspid aortic valves (BAV) were found in 52/152 (34%) 45,X study subjects and aortic coarctation (COA) in 19/152 (12.5%). Isolated anomalous pulmonary veins (APV) were detected in 15/152 (10%) for the 45,X study group, and this defect was not correlated with the presence of BAV or COA. BAVs were present in 28.6% of subjects with Xp deletions and COA in 6.7%. APV were not found in subjects with Xp deletions. The most distal break associated with the BAV/COA trait was at cytologic band Xp11.4 and ChrX:41,500 000. One of 14 subjects (7%) with the 46,X,i(Xq) karyotype had a BAV and no cases of COA or APV were found in this group. No cardiovascular defects were found among four patients with Xq deletions. Conclusions The high prevalence of BAV and COA in subjects missing only the X chromosome short arm indicates that haploinsufficiency for Xp genes contributes to abnormal aortic valve and aortic arch development in TS. [ABSTRACT FROM AUTHOR]

Background: Turner Syndrome (TS) is due to X chromosome monosomy and affects ∼1 per 2500 females at birth. The major features are short stature and primary ovarian failure. Short stature and monosomy for a maternal X chromosome have been implicated in impaired functionality in adult life; however, data on adult outcomes in TS are limited. In this study we evaluated the influence of adult height and parental origin of the single X chromosome on education, employment, and marital outcomes among women with TS. Methods: This was a cross-sectional study of 240 women (25-67 years old) with TS participating in an intramural National Institutes of Health (NIH) study. Parental origin of the single X chromosome was determined by genotyping proband and parental genomic DNA. Information on education, employment, and family status was self reported. Normative data was obtained from the U.S. Bureaus of Census and Labor and Statistics. Results: Seventy percent of the TS group had a baccalaureate degree or higher, compared with 30% of U.S. women ( p<0.0001). Eighty percent of the TS group was employed compared with 70% of the U.S. female population. Approximately 50% of the TS group had ever married, compared with 78% of the general female population ( p<0.0001). Height and parental origin of the single normal X chromosome had no association with education, employment, or marital status. Conclusion: Women with TS currently achieve education and employment levels higher than the female U.S. population but are less likely to marry. Neither adult height nor parental origin of the single X chromosome influenced outcomes in education, employment, or marriage. [ABSTRACT FROM AUTHOR]

Certain behavioral and metabolic aspects of Turner syndrome (TS) are attributed to X-chromosome genomic imprinting. To investigate the possible contribution of imprinting to the physical features of the TS phenotype in live-born individuals, we genotyped the single normal X-chromosome in subjects with TS who all underwent a comprehensive evaluation as part of the NIH genotype–phenotype protocol. All had physical examinations, auxological measurements and imaging of the renal and cardiovascular systems. Absolute height and height as a percent of predicted height was the same in XM ( n = 56) and XP ( n = 23) subjects that had reached final height and were not growth hormone treated. Interestingly, adult height was significantly correlated with maternal but not paternal heights in both XM and XP groups. Neck webbing was found in 35% of the XM ( n = 133) and 22% of the XP ( n = 50) groups ( P = 0.11). Renal anomalies were present in 24% of XM and 25% of XP groups ( P = 0.9). Bicuspid aortic valve was found in 26% of XM and 24% of XP groups ( P = 0.83), and any cardiovascular anomaly (abnormal aortic valve, aortic coarctation, elongated transverse aortic arch, anomalous pulmonary venous connection, left superior vena cava) affected 55% of XM and 52% of XP groups. Thus, we found no evidence for X-linked genomic imprinting effects on stature or lymphatic, renal or cardiovascular development in TS. Our sample size was sufficient to exclude such effects within 95% confidence limits. We did demonstrate a selective maternal effect on final stature that was independent of X-chromosome origin, suggesting potential autosomal imprinting effects on growth revealed by X monosomy. [ABSTRACT FROM AUTHOR]

Background: Premature Ovarian Failure (POF), defined as the development of hypergonadotropic amenorrhea before the age of 40 years, occurs in about 1% of all women. Other than karyotype abnormalities, very few genes are known to be associated with this ovarian dysfunction. Recently, in seven patients who presented with POF and white matter abnormalities on MRI (ovarioleukodystrophy) eight mutationswere found in EIF2B2, 4 and 5. Methods: To further test the involvement of known mutations of EIF2B genes in POF, we screened 93 patients with POF who did not have identified leukodystrophy or neurological symptoms. We evaluated these eight mutations and two additional mutations that had been found in patients with milder forms of eIF2B-related disorders. We used restriction enzymes and direct sequencing. Results: None of the known mutations in EIF2B genes, either homozygous or heterozygous, were identified in our 93 patients with pure 46,XX POF. The upper 95 % confidence limit of the proportion 0/93 is 3.2%. Conclusions: We conclude that eIF2B mutations, already described in cases of POF associated with white matter abnormalities, are an uncommon cause of pure spontaneous premature ovarian failure. [ABSTRACT FROM AUTHOR]

Background: Most girls with Turner syndrome (TS) need estrogen replacement treatment (ERT) to induce and maintain feminization and prevent osteoporosis. There is abundant information on ERT use in postmenopausal women, but there is little information on this issue in women with TS. We aimed to determine the level of ERT use in women with TS living in the United States and assess the effects of ERT adherence vs. nonadherence on bone mineral density (BMD). Methods: Fifty women with TS aged 30-59 years had ERT history obtained by structured interviews and BMD assessed at the lumbar spine by dual x-ray absorptiometry (DXA) and quantitative computed tomography (QCT). Results: Thirty-four of the 50 women with TS had received ERT according to current recommendations, and the rest did not either because of physician failure to prescribe (5 of 50) or because of nonadherence to prescribed ERT (11 of 50). The mean duration of ERT was 25 ± 2 years for the standard of care group vs. 8 ± 2 years for the others (p < 0.0001). The major factor promoting adherence to ERT was education on the importance of ERT for bone health (p < 0.001). As expected, lumbar spine BMD was significantly reduced in women not taking ERT according to current guidelines (e.g., a reduction of 20% by QCT, p < 0.001) with 6 of 16 of these women having osteoporosis and 3 of 16 having vertebral compression fractures compared with 0 of 34 in the ERT adherent group. Conclusions: Approximately 70% of women with TS in this sample of highly educated women in the United States are taking ERT as currently recommended and appear to be protected from osteoporosis of the spine, whereas those women using ERT less than 75% of the time are at grave risk for osteoporosis. In a time of new reservations about postmenopausal ERT, it is important to emphasize to young women with TS and their caregivers that ERT is critical for bone health. [ABSTRACT FROM AUTHOR]

An asymptomatic young woman was discovered to have life-threatening aneurysms and dissection of the thoracic aorta during routine evaluation in a Turner syndrome (TS) study. The presence of a heart murmur and hypertension had led to diagnosis and surgical repair of an atrial septal defect at age 5 and of aortic coarctation at age 12. The diagnosis of TS was made at 16 years of age due to short stature and delayed pubertal development. She was treated with growth hormone from age 16 to 18 and with atenolol, thyroid hormone, and estrogen. She discontinued her medications and was lost to medical follow-up at age 20. Upon presenting here at age 26, she reported a very active lifestyle, including vigorous exercise and an acting career, with no symptoms of chest or back pain or shortness of breath. Cardiovascular imaging revealed aortic regurgitation, an unsuspected dissection of a severely dilated ascending aorta, and a large descending aortic aneurysm. She required surgical replacement of her aortic valve and ascending aorta, followed by endovascular repair of the descending aortic aneurysm. This patient illustrates the importance of considering the diagnosis of TS in girls with congenital aortic defects and the absolute necessity for close, expert follow-up of these patients who are at high risk for complications after surgical repair due to an underlying aortopathy, hypertension, and metabolic disorders. This patient also emphasizes the need to publicize and follow screening guidelines as there is an increasing number of patients with congenital defects who need transition to adult care. [ABSTRACT FROM AUTHOR]

An abstract of the article " Shunt and right ventricular structural findings in isolated anomalous pulmonary venous return in Turner syndrome," by Laura Olivieri, Anjali Chelliah, Li-Yueh Hsu, Richard B. Thompson, Vladimir Bakalov, Douglas Rosing, Carolyn Bondy, and Andrew E. Arai is presented.

A letter to the editor is presented on Turner syndrome in adults.

This article presents a letter to the editor concerning maternal x chromosome, visceral adiposity, and lipid profiles.

Presents a letter to the editor concerning a study of lipid profiles in women with primary ovarian failure.

The article focuses on the findings of a study that aims to determine whether the Turner syndrome (TS) is due to impaired glucose sensing or to a more fundamental cell defect. It notes that type 2 diabetes (T2DM) and impaired glucose tolerance (IGT) are common in TS. The researchers compared insulin responses to glucose and arginine in TS and age-matched control women.

The article discusses a study on the effect of growth hormone (GH) treatment on glucose tolerance in girls with Turner Syndrome (TS). It states that since GH is known to promote insulin resistance, it is expected to increase the propensity for impaired glucose tolerance. The glucose tolerance and insulin secretion were investigated by means of an oral glucose tolerance test (OGTT). The reason for the improvement of glucose tolerance in girls with TS is given.

A letter to the editor is presented in response to the article "Declining Estrogen Use in Young Women With Turner Syndrome."

Presents the authors' reply to a reader's letter to the editor about a study of lipid metabolism in women and offers criticism of the research methods.