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| 2. |
- Amundson, Emily, et al.
(författare)
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Genetiska, somatiska och hormoners effekter på livskvalitet vid Turners syndrom.
- 2008
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Ingår i: Poster vid Svenska Läkaresällskapets Riksstämma 2008.
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Konferensbidrag (övrigt vetenskapligt/konstnärligt)abstract
- Livskvalitet var inte relaterad till längd, karyotyp eller hormonbehandling men påverkades negativt av social isolering, osteoporos och dålig balans vid Turners syndrom. Det är viktigt med en aktiv livsstil redan från barnsben för att få enbra muskel- och balansfunktion och därigenom en god livskvalitet.
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| 3. |
- Amundson, Emily, et al.
(författare)
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Impact of growth hormone therapy on quality of life in adults with turner syndrome.
- 2010
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Ingår i: The Journal of clinical endocrinology and metabolism. - : The Endocrine Society. - 1945-7197 .- 0021-972X. ; 95:3, s. 1355-9
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Tidskriftsartikel (refereegranskat)abstract
- Context: GH and/or oxandrolone are used to promote growth in Turner syndrome (TS). Objective: The aim of this study was to compare quality of life (QoL) in TS women with controls and determine the impact of growth promoting therapy on QoL in TS women. Design: This was a cross-sectional, case-control study. Setting: The study was conducted at an outpatient clinic at Sahlgrenska University Hospital, Göteborg, Sweden. Patients: Patients included 111 TS women (age range 18-59 yr) and 111 randomly selected, age-matched women (25-54 yr) from the World Health Organization Monitoring Trends and Determinants for Cardiovascular Disease project (Göteborg, Sweden) served as controls. Main Outcome Measures: QoL was estimated by the Psychological General Well-Being scale (anxiety, depressed mood, positive well-being, self-control, general health and vitality) and the Nottingham Health Profile (physical mobility, pain, sleep, energy, social isolation, and emotional reactions). Results: TS women reported more social isolation than controls (P < 0.001). After age adjustment, significantly less pain (<0.05) was reported attributable to GH treatment within TS. No significant difference in any other subscales used could be shown. In TS, QoL was negatively affected by higher current age and age at diagnosis and positively affected by better body balance, fine motor function, and higher bone mineral density. Conclusions: Social isolation was more commonly reported in the whole TS cohort than in the population. Except for less pain, no significant impact on QoL attributable to GH treatment could be found, despite the mean +5.1 cm final height.
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| 6. |
- Bryman, Inger, et al.
(författare)
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Pregnancy rate and outcome in Swedish women with Turner syndrome
- 2011
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Ingår i: Fertility and Sterility. - : Elsevier BV. - 1556-5653 .- 0015-0282. ; 95:8, s. 2507-2510
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Tidskriftsartikel (refereegranskat)abstract
- Pregnancies occurred in 57 (12%) of 482 Swedish women with Turner syndrome with a liveborn rate of 54% in 124 pregnancies. Spontaneous pregnancies occurred in 40%, mainly in women with 45,X/46,XX mosaicism, and oocyte donation in 53% where miscarriages were less frequent, odds ratio 0.43 (95% confidence interval 0.17-1.04). (Fertil Steril (R) 2011; 95: 2507-10. (c) 2011 by American Society for Reproductive Medicine.)
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| 7. |
- Bryman, Inger, et al.
(författare)
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Pregnancy Rate and Outcome in Swedish Women With Turner Syndrome EDITORIAL COMMENT
- 2011
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Ingår i: Obstetrical and Gynecological Survey. - 0029-7828 .- 1533-9866. ; 66:12, s. 756-757
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- The rate of spontaneous pregnancies in women with Turner syndrome (TS) is low (2% to 5%). Oocyte donation is an option for these women and enables many to become pregnant. Some investigators question the use of pregnancy induction in TS because of the high risk for aortic dissection or other serious cardiac events. A cardiac evaluation is recommended before pregnancy is planned in TS. Among patients with TS who use their own oocytes to become pregnant, 45% suffered a miscarriage. The aim of this study was to assess pregnancy rate and outcome in a population of Swedish women with spontaneous pregnancies or who were induced using donated oocytes. Cytogenetic karyotype also was examined; mosaicism was defined as the presence of more than 5% 46, XX cells. The study subjects were 482 women with TS who had participated in a voluntary screening program conducted at Swedish Turner Centers. Among the 482 women with TS, 57 (12%) had pregnancies, including spontaneous pregnancies. The live-born rate was 67 of 124 (54%). The patient's own oocytes were used in 27 (47%) of the pregnancies and oocyte donation in 30 (53%) of pregnancies. Spontaneous pregnancies occurred in 23 of 57 women (40%) with TS. Most pregnancies using the patient's own oocytes occurred in those with 45, X/46, XX mosaic karyotype. The miscarriage rate was 26% after oocyte donation and 45% with the use of the patient's own oocytes. Five liveborns (7%) had birth defects or a serious illness; 4 of these were born after spontaneous pregnancies. Only 1 live-born had coarctation of the aorta.
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| 8. |
- Denes, Anna-Maria, 1988, et al.
(författare)
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The Proportion of Diploid 46,XX Cells Increases with Time in Women with Turner Syndrome-A 10-Year Follow-Up Study
- 2015
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Ingår i: Genetic Testing and Molecular Biomarkers. - : Mary Ann Liebert Inc. - 1945-0265 .- 1945-0257. ; 19:2, s. 82-87
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Tidskriftsartikel (refereegranskat)abstract
- In the normal population, loss of one of the sex chromosomes leading to monosomy (45,X) is a part of the aging process. In Turner syndrome (TS), the classic karyotype 45,X is found in up to 50% at birth, and others have a second cell line; mosaicism. The aim was to study if the chromosomal pattern in TS women changes over time. Fluorescence in situ hybridization was performed on buccal smear cells obtained twice, 10 years apart, from 42 women with TS aged 26-66 years (mean +/- standard deviation: 42.0 +/- 11.6). DNA probes specific for chromosomes X (DXZ1) and Y (DYZ3) were used and >100 cells were analyzed/patient. Nineteen women had monosomy (45,X) (<10% 46,XX), nine had 45,X/46,XX mosaicism, and 14 had iso, ring, or a marker chromosome at baseline. At 10 years, the percentage of diploid cells had increased in 29 of 42 women (69%), with an average increase of 5.7 +/- 13.0%. There was a positive correlation between age and % change in diploid 46,XX or 46,XY cells (r=0.38, p=0.023). This new finding might have relevance for the life expectancy in TS.
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| 9. |
- El-Mansoury, Mohamed Mostafa, 1953, et al.
(författare)
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Chromosomal mosaicism mitigates stigmata and cardiovascular risk factors in Turner syndrome.
- 2007
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Ingår i: Clinical endocrinology. - : Wiley. - 0300-0664 .- 1365-2265. ; 66:5, s. 744-51
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE: To study genotype-phenotype correlations in Turner syndrome (TS) regarding body composition, cardiovascular risk factors, stigmata and age at diagnosis vs. degree of mosaicism estimated as the percentage of 45,X and 46,XX cells. METHODS: One hundred and twenty-six TS women, mean age 31 years, were examined by three specialists, who reported stigmata independent of each other. Dual energy X-ray absorptiometry (DXA) was used to measure bone mineral density (BMD). The karyotype was blinded. Fluorescence in situ hybridization (FISH) was performed on buccal cells. A random population sample served as controls. RESULTS: Forty-four per cent exhibited a 45,X karyotype and 56% a second-cell line, while 27% of all had a 45,X/46,XX mosaicism. Five 45,X cases with a conventional karyotype were 45,X/46,XX mosaic according to FISH. At diagnosis, 45,X cases were younger (P < 0.05) and had more stigmata per person (P < 0.01) than the mosaics. TS with marker chromosome X or Y, iso or ring, did not differ from 45,X in this aspect. The mosaics had higher BMD and SHBG and lower total cholesterol and FSH than TS with 45,X and did not differ compared with controls in terms of body mass index (BMI), waist/hip ratio, BMD, blood pressure, cholesterol, triglycerides, SHBG, diabetes or osteoporosis. The number of stigmata correlated positively to BMI, waist/hip ratio, cholesterol and %45,X and inversely to height and %46,XX according to FISH. CONCLUSIONS: Mosaicism seems to mitigate the TS phenotype and the cardiovascular risk factor profile. Mosaics were diagnosed 8 years later than 45,X cases. This emphasizes the necessity for a stricter genotype categorization not only in the clinic but also in research on TS than previously adopted.
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| 10. |
- El-Mansoury, Mohamed Mostafa, 1953, et al.
(författare)
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Elevated liver enzymes in Turner syndrome during a 5-year follow-up study.
- 2008
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Ingår i: Clinical endocrinology. - : Wiley. - 1365-2265 .- 0300-0664. ; 68:3, s. 485-90
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVES: To study the prevalence and incidence of elevated liver enzymes and their relationship with body weight, metabolic factors and other diseases in Turner syndrome (TS). DESIGN: Five-year follow-up. PATIENTS: Women with TS (n = 218, mean age 33 +/- 13, range 16-71 years) from outpatient clinics at university hospitals in Sweden. MEASUREMENTS: Fasting blood samples for aspartate (AST) and alanine aminotransferase (ALT), bilirubin, alkaline phosphatase (ALP), gamma-glutamyl transferase (GT), viral hepatitis serology and hepatic auto-antibodies, vitamin B12, blood glucose, lipids and hormones. RESULTS: Seventy-nine subjects (36%) had one or more liver enzyme levels higher than the reference level, the most prevalent being GT. Karyotype 45,X was present in 51% of all TS women and in 48% of those with elevated liver enzymes. Body weight, body mass index (BMI), total cholesterol, triglycerides, and apolipoproteins A and B at start were higher in TS women with elevated liver enzymes than in TS women with normal levels. At 5 years, AST, ALT and GT were increased and another 23% of patients had developed elevated liver enzymes, that is, 59% in total (36% + 23%), while in 6%, the elevated liver enzymes had been normalized and all 6% also had lowered cholesterol levels. Multivariate analysis showed that GT was correlated with total cholesterol; P = 0.0032 at start and P = 0.0005 at 5 years, independently of other factors. Liver biopsy in six TS women showed one cholangitis, one hepatitis C, two steatosis and two normal biopsies. Withdrawal of oestrogen substitution did not influence the liver enzymes. CONCLUSIONS: Pathological liver enzymes were common in TS women, with a prevalence of 36% at 33 years of age, an annual incidence over 5 years of 3.4%. There was no relation to karyotype, alcohol, viral hepatitis, E(2) or autoimmunity, but a connection with total serum cholesterol.
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