Turner syndrome is one of the more common genetic disorders, associated with abnormalities of the X chromosome, and occurring in about 50 per 100,000 liveborn girls. Turner syndrome is usually associated with reduced adult height, gonadal dysgenesis, and thus insufficient circulating levels of female sex steroids, and infertility. A number of other signs and symptoms are seen more frequent with the syndrome. Morbidity and mortality is increased. The average intellectual performance is within the normal range. With respect to epidemiology, cardiology, endocrinology and metabolism a number of recent studies have allowed new insight. Treatment with GH during childhood and adolescence allows a considerable gain in adult height. Puberty has to be induced in most cases, and female sex hormone replacement therapy is given during adult years. The proper dose of HRT has not been established, and, likewise, benefits and/or drawbacks from HRT has not been thoroughly evaluated. Since the risk of cardiovascular and endocrinological disease is clearly elevated, proper care during adulthood is emphasized. In summary, Turner syndrome is a condition associated with a number of disease and conditions which are reviewed in present paper.
Context: Turner syndrome is characterized by complete or partial X chromosome monosomy. It is associated with substantial morbidity, but mortality risks and causes of death are not well described. Objectives: our objective was to investigate mortality and causes of death in women with Turner syndrome. Design and Setting: we constructed a cohort of women diagnosed with Turner syndrome at almost all cytogenetic centers in Great Britain and followed them for mortality. Patients: a total of 3439 women diagnosed between 1959–2002 were followed to the end of 2006. Outcome Measures: standardized mortality ratios (SMRs) and absolute excess risks were evaluated. Results: in total, 296 deaths occurred. Mortality was significantly raised overall [SMR = 3.0; 95% confidence interval (CI) = 2.7–3.4] and was raised for nearly all major causes of death. Circulatory disease accounted for 41% of excess mortality, with greatest SMRs for aortic aneurysm (SMR = 23.6; 95% CI = 13.8–37.8) and aortic valve disease (SMR = 17.9; 95% CI = 4.9–46.0), but SMRs were also raised for other circulatory conditions. Other major contributors to raised mortality included congenital cardiac anomalies, diabetes, epilepsy, liver disease, noninfectious enteritis and colitis, renal and ureteric disease, and pneumonia. Absolute excess risks of death were considerably greater at older than younger ages. Conclusions: mortality in women with Turner syndrome is 3-fold higher than in the general population, is raised for almost all major causes of death, and is raised at all ages, with the greatest excess mortality in older adulthood. These risks need consideration in follow-up and counseling of patients and add to reasons for continued follow-up and preventive measures in adult, not just pediatric, care
One of the characteristic symptoms in girls and women with Turner syndrome (TS) is ovarian failure with infertility. Puberty starts spontaneously in 15% to 30% of girls with this syndrome but less than 5% reach menarche with the possibility of becoming pregnant because ovarian follicles secreting estrogen disappear prematurely. In a prior study, the investigators cryopreserved biopsy specimens from ovarian cortical tissue of adolescent girls with TS and found remaining follicles in 8 of 10 girls. This study investigated clinical and laboratory parameters that could help identify which girls with TS are likely to benefit from freezing of ovarian tissue to preserve fertility. The study subjects were 57 girls with TS, aged 8 to 19.8 years who had been referred to a fertility unit by 25 pediatric endocrinologists in Sweden. Ovarian cortical tissue was biopsied laparoscopically for follicle counts and cryopreserved. Parameters analyzed included karyotype, age at biopsy, spontaneous onset of puberty and menarche, number of follicles, and serum concentrations of follicle stimulating hormone, luteinizing hormone, and anti-Müllerian hormone. Among the 57 girls in the study, ovarian biopsy was feasible in 47, and follicles were identified in 15 (26%). Follicles were found in 6 of 7 (86%) girls with mosaicism, in 6 of 22 (27%) with structural chromosomal abnormalities, and in 3 of 28 (10.7%) with karyotype 45X. Signs of spontaneous onset of puberty were found in 19 girls, 11 of whom (58%) had follicles in the tissue. Menarche had been reached spontaneously in 13 girls; of these, 8 (62%) had follicles. Despite a high-negative predictive value for finding follicles in girls below 12 years, age was not a significant factor. These findings show that girls with TS who have the highest likelihood of having remaining follicles are those with mosaicism, spontaneous onset of puberty, and normal hormone concentrations.
Eleven endometrial biopsies, taken from six Turner's syndrome patients receiving hormone replacement therapy prior to treatment by oocyte donation and embryo transfer, were assessed by freeze fracture followed by electron microscopy for epithelial tight junctions. Nine of the eleven biopsies had no discernible tight junctions; the other two biopsies had reduced and disorganized junctional structures. Two patients subsequently became pregnant following embryo transfer. It is concluded that compromised epithelial integrity does not prevent embryo implantation in the human, an observation that is consistent with a barrier role for the epithelium except at times when appropriately conditioned with oestrogen and progesterone to induce receptivity for implantation.
Turner's syndrome is a chromosomal abnormality (45X0) which may be associated with various autoimmune disorders and disease conditions; however, association with liver pathology has rarely been reported.
The aim of this work was to assess liver function abnormalities in a group of adult patients with Turner's syndrome.
Liver function tests were performed in 16 women with Turner's syndrome all of whom had been previously treated with oestrogens. Patients with liver abnormalities were further studied with hepatic ultrasonography, serological markers of viral hepatitis and autoantibody determinations.
Seven women (43.7%) presented with asymptomatic liver cholestasis; these patients were older than those with normal biochemical values (33.4+/-5.2 vs 24.7+/-5.7 years, P<0.05). Liver function abnormalities appeared 7.8+/-4.9 years after starting oestrogen therapy; however, no improvement of liver function was observed 20+/-17.7 months after stopping treatment. All of these women were anti-HCV and HBsAg negative, and autoimmune hepatitis was ruled out in all cases. Liver ultrasound only disclosed homogeneous liver enlargement in one case and cholelithiasis without bile duct abnormalities in another. Four patients underwent a percutaneous liver biopsy of which two were normal and two showed minimal non-specific changes.
The incidence of biochemical liver cholestasis in this group of patients with Turner's syndrome is high. Oestrogen therapy and autoimmune disorders do not seem to be the responsible causes. It appears that this is a benign condition which does not seem to reflect any substantial liver dysfunction. The aetiology remains uncertain.
We studied the prevalence and incidence of hypothyroidism in 171 women with Turner syndrome (TS) during a period of 5 years. At the mean age of 33 years, 19% were treated for hypothyroidism and another 11% had newly detected disease, i.e. 30% had hypothyroidism, evenly distributed among the karyotypes. Elevated thyroid peroxidase antibody titer (TPO) was present in 30% of all TS and in 37% of those with hypothyroidism. After a 5-year follow-up, another 15% developed hypothyroidism giving an annual incidence of 3%. Altogether, 45% had hypothyroidism at the mean age of 38 years. In TS above 50 years of age 47% had hypothyroidism. In conclusion, almost every second TS woman will most probably develop hypothyroidism and those with elevated TPO levels are at highest risk.
This paper presents results from a detailed assessment of the psycho-social adaptation of a group of adult women with Turner syndrome. Thirty subjects, 21 to 48 years of age, participated in an evaluation of social and psychiatric status. The evaluation included a semi-structured interview designed to assess current social functioning and past psychiatric and social history. Subjects completed two self-report questionnaires as well: the Tennessee Self-Concept Scale and the Carroll Rating Scale for Depression. The results reveal a significant subgroup of subjects reporting major psychiatric difficulties and endorsing a considerably impaired sense of self-esteem. These women presented as very dissatisfied with themselves and their lives. These findings are not consistent with previous reports in which women with Turner syndrome have been described as having an unusually high tolerance for stress and being emotionally inert.