| 1. |
- 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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| 2. |
- El-Mansoury, Mohamed Mostafa, 1953, et al.
(författare)
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Hypothyroidism is common in turner syndrome: results of a five-year follow-up.
- 2005
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Ingår i: The Journal of clinical endocrinology and metabolism. - : The Endocrine Society. - 0021-972X .- 1945-7197. ; 90:4, s. 2131-5
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Tidskriftsartikel (refereegranskat)abstract
- Turner syndrome (TS) is caused by a sex chromosome aberration. The aim was to study the prevalence and incidence of thyroid disease in adults with TS. Women with TS (n = 91; mean age, 37.7 +/- 11 yr) were compared with an age-matched female random population sample (n = 228). At baseline, 15 (16%) TS women were treated for hypothyroidism, and elevated serum TSH was found in another eight (9%). As a result, hypothyroidism was more common in women with TS (25%) than in controls (2%; P < 0.0001). Serum free T4 was lower (P = 0.02), and serum TSH was higher (P < 0.0001) in TS women than in age-matched controls. Of all TS women with hypothyroidism, 10 (43%) had an elevated thyroid peroxidase antibody titer vs. 15 (22%) of those without hypothyroidism (P < 0.05), evenly distributed between the karyotype 45,X and mosaicism. A high body mass index, but not a family history or blood lipids, was associated with hypothyroidism in TS. After the 5-yr follow-up, an additional 11 (16%) developed hypothyroidism, of whom four (36%) had elevated thyroid peroxidase. Altogether, 34 (37%) TS women had hypothyroidism after the 5-yr follow-up. Autoimmune hypothyroidism was common, with an annual incidence of 3.2% in TS. Thyroid function should be checked regularly in TS.
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| 3. |
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| 4. |
- Schmidt, Johanna, 1974, et al.
(författare)
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High androgen levels protect against hypothyroidism
- 2017
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Ingår i: Acta Obstetricia Et Gynecologica Scandinavica. - : Wiley. - 0001-6349. ; 96:1, s. 39-46
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Tidskriftsartikel (refereegranskat)abstract
- IntroductionHypothyroidism is a common disorder, appearing mainly in women although less frequently found in women with polycystic ovary syndrome (PCOS). The objective was to test the hypothesis that hyperandrogenism might protect against hypothyroidism. Material and methodsThe data from three prospective follow-up studies (up to 21years) and one register study were compared: women with PCOS (Rotterdam criteria), n=25, women with Turner syndrome, n=217, a random population sample of women, n=315, and men, n=95 (the WHO MONICA study). Findings were to be verified or rejected in all females, n=553 716, from the same region. The proportion of hypothyroidism was calculated and thyroid peroxidase antibodies (TPO) in serum were measured. ResultsHypothyroidism at >50years of age was found in 8% of women with PCOS, 4% in men (PCOS vs. men; ns), 43% of women with Turner syndrome, irrespective of karyotype (p<0.001 vs. PCOS), and in 17% of postmenopausal women in the population (p<0.01 vs. PCOS). Elevated TPO were similar in PCOS and women and men in the population but higher in Turner syndrome. Hypothyroidism increased with age in all groups except PCOS women and men. In the register study, hypothyroidism was less common in women with PCOS >25years (5.5%) than in women without PCOS (6.8%) from the same region (p<0.01). ConclusionsHypothyroidism was less frequently seen in women with PCOS and in men compared with women in the general population and among women with Turner syndrome. This was not explained by altered autoimmunity or the Y-chromosome. Androgens seem to protect against hypothyroidism.
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| 5. |
- 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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| 6. |
- 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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| 7. |
- Barrenäs, Marie-Louise, 1952, et al.
(författare)
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Ear and hearing in relation to genotype and growth in Turner syndrome.
- 2000
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Ingår i: Hearing research. - 0378-5955. ; 144:1-2, s. 21-8
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Tidskriftsartikel (refereegranskat)abstract
- Hearing loss, auricular anomalies and middle ear infections are common findings in many genetic disorders, but the mechanisms have remained unknown. We studied ear and hearing problems in Turner's syndrome (TS) in relation to the degree of X chromosome loss (i.e. degree of mosaicism) and growth. One hundred and nineteen girls and women with TS were studied regarding audiometry, fluorescent in situ hybridisation, serum concentration of insulin-like growth factor-1 (IGF-1) and body height. It was found that sensorineural hearing loss and occurrence of auricular anomalies were significantly increased the greater the proportion of 45,X cells in a particular individual (P<0.05 and P<0.001, respectively). Middle ear infections and sensorineural hearing loss were negatively correlated with IGF-1 (P<0.05 and P<0.001, respectively). Hearing correlated positively with height (P<0.01) and IGF-1 independently of age (P<0.05). Height correlated positively with IGF-1 (P<0.001). Auricular malformations, middle ear infections and hearing impairment in TS were interpreted as due to growth disturbances during development. A new hypothesis on the pathophysiology of external, middle and inner ear disorders due to a delayed cell cycle caused by chromosomal aberrations per se and not only to the specific X chromosome deletion is presented.
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| 8. |
- 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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| 9. |
- Dotevall, Annika, 1957, et al.
(författare)
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Hearing and Balance Exceed Initial Bone Mineral Density in Predicting Incident Fractures: A 25-Year Prospective Observational Study in Menopausal Women With Osteoporosis
- 2022
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Ingår i: Jbmr Plus. - : Wiley. - 2473-4039. ; 6:1
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Tidskriftsartikel (refereegranskat)abstract
- Hearing and balance deteriorate, and fracture incidence increases with age, especially in women. The aim of the present study was to investigate whether impaired hearing and body balance are stronger predictors of fractures than bone mass. Between 1995 and 1997, 80 women, aged 50 to 70 years, with primary osteoporosis, taking menopausal hormone therapy, mainly for menopausal symptoms, participated in a double-blind, randomized, placebo-controlled study of treatment with growth hormone versus placebo. All women received calcium 750 mg and vitamin D 400 U daily. They were then examined yearly until 2007 and followed up by registers until 2020. Hearing was assessed by audiometry. Body balance and fine motor function were tested according to the Bruininks-Oseretsky test. Bone properties were measured with DXA. Data on fractures were derived from the Gothenburg Hospital register. Over the 25-year follow-up, 50 women (63%) sustained 104 fractures, most often related to accidental falls. Thoracic and lumbar spine fractures were most common (36%). Other fractures occurred in the pelvis (14%), humerus (14%), hip (11%), and wrist (10%). Hearing impairment at baseline, measured as pure tone average-high (p = 0.007), pure tone average-mid (p = 0.003), and speech-recognition score (p = 0.025), was associated with a subsequent first fracture, as were worse body balance (p = 0.004), upper limb coordination (p = 0.044), and higher running-speed agility (p = 0.012). After adjustment for age and BMD, pure tone average-high (p = 0.036), pure tone average-mid (p = 0.028), and body balance (p = 0.039) were still significantly associated with incident fractures. Bone mineral content, BMD, and treatment at baseline were not associated with subsequent fracture. In conclusion, hearing and body balance at baseline exceeded initial BMD in predicting incident fractures in osteoporotic women regardless of treatment during 25-year follow-up. (c) 2021 The Authors. JBMR Plus published by Wiley Periodicals LLC on behalf of American Society for Bone and Mineral Research.
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| 10. |
- Dotevall, Annika, 1957, et al.
(författare)
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Hearing loss but not bone-regulating hormones predicts fractures in older women-a 17-year follow-up of the Gothenburg BEDA study
- 2020
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Ingår i: Osteoporosis International. - : Springer Science and Business Media LLC. - 0937-941X .- 1433-2965. ; 31, s. 557-565
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Tidskriftsartikel (refereegranskat)abstract
- High-frequency hearing loss and S-Ca, but not hormones related to bone structure and strength, or lifestyle factors, predicted incident fractures during 17 years of follow-up in women up to 97 years of age. Introduction The fracture risk increases and inner ear function deteriorates with increasing age. The aim of this study was to investigate whether hearing loss was of greater importance than bone-regulating hormones for the risk of fracture in elderly women. Methods In 1997, a random population sample of 63-82-year-old women, n = 552, underwent a physical examination, audiometry and blood sampling for analyses of serum albumin-adjusted calcium (S-Ca), parathyroid hormone (PTH), 25(OH) vitamin D and insulin-like growth factor-1 (IGF-1). Data on medication, lifestyle, previous fractures, hearing, vision and dizziness were obtained using questionnaires. Data on subsequent fractures were retrieved, and censored at death, through December 2013. Results In 1997, 228 women (41%) reported a previous fracture, most commonly of the wrist (18%). During the following 17 years, 323 fractures occurred in 207 women (38%). Hip fractures were the most frequent, in 96 women (17%). In a Cox regression analysis adjusted for age and previous fractures, hearing loss, reflected by a high pure tone average >= 59 dB, almost doubled the risk of a subsequent fracture (hazard ratio (HR) 1.81, 95% CI 1.25; 2.61, p = 0.002). S-Ca (HR 1.21 (1.02; 1.44) p = 0.028) also predicted future fractures, whereas PTH, IGF-1, 25(OH) vitamin D, hormone replacement therapy, smoking, degree of physical activity, impaired vision and dizziness did not. Conclusion Hearing loss and higher S-Ca, but not bone-regulating hormones, medication or lifestyle factors predicted incident fractures, mainly caused by falling, during 17 years of follow-up in women up to 97 years of age.
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| 11. |
- 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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| 12. |
- El-Mansoury, Mohamed Mostafa, 1953, et al.
(författare)
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Impaired body balance, fine motor function and hearing in women with Turner syndrome.
- 2009
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Ingår i: Clinical endocrinology. - : Wiley. - 1365-2265 .- 0300-0664. ; 71:2, s. 273-8
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE: Fractures are related to falling. Turner syndrome (TS) is associated with hypogonadism, osteoporosis and fractures and has been considered as a syndrome of early ageing. The aim was to study whether fine motor function (FM) and body balance (BB) were impaired and related to genotype, fractures, metabolic variables and hearing. DESIGN: Cross-sectional study. PATIENTS: TS women, n = 75, mean age 30 years (range 16-59) and treated with oestrogen hormone replacement therapy (HRT) at the out-patient clinic, Sahlgrenska University Hospital, Göteborg, Sweden, and 31 healthy controls, mean age 37 years (range 24-63). MEASUREMENTS: Six FM and eight BB tests with open and closed eyes, respectively, were done. Bone mineral density was estimated with Dual energy X-ray Absorptiometry. Presence/absence of fractures was noted, blood samples were taken and audiometry was done in the TS women. RESULTS: TS women had poorer FM (27.4 +/- 6.0 vs. 32.8 +/- 2.2; P < 0.0001) and BB (28.0 +/- 8.1 vs. 34.7 +/- 2.4; P < 0.0001) than controls. FM was poorer in TS women with hearing aids compared to those without (P < 0.05). FM and BB were negatively correlated with age, waist : hip ratio and positively correlated with hearing, and bone mineral density, and BB was negatively correlated with physical activity in TS women. BB correlated negatively with age in controls. FM, BB and hearing function were poorer in 45,X, nonmosaics, than in 45,X/46,XX, mosaics. CONCLUSIONS: FM and BB were poorer in adult TS women on HRT than in controls. Higher age, hearing impairment, osteoporosis, abdominal obesity, a sedentary lifestyle and the TS per se were strong determinants, and mosaicism mitigated both fine motor function and BB in TS.
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| 13. |
- Hagman, Anna, et al.
(författare)
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Morbidity and mortality after childbirth in women with Turner karyotype.
- 2013
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Ingår i: Human reproduction (Oxford, England). - : Oxford University Press (OUP). - 1460-2350 .- 0268-1161. ; 28:7, s. 1961-1973
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Tidskriftsartikel (refereegranskat)abstract
- STUDY QUESTION: Do women with Turner karyotype have increased mortality and morbidity in the years after childbirth? SUMMARY ANSWER: No mortality occurred during pregnancy and follow-up in women with Turner karyotype, but a higher rate of circulatory and endocrine diseases and a high risk of aortic aneurysm were confirmed. WHAT IS KNOWN ALREADY: Pregnancies in women with Turner karyotype are high-risk pregnancies with an increased risk of maternal mortality from aortic dissection and morbidity from hypertensive disorders. STUDY DESIGN, SIZE, DURATION: A retrospective Swedish population-based registry study of 124 women with Turner karyotype born between 1957 and 1987 and who gave birth between 1973 and 2010. Women with Turner karyotype without childbirth (n = 378) were selected as controls. A second control group consisted of women from the Swedish Medical Birth Register (MBR) (n = 1230) matched for maternal age, number of children and year of birth of the first child. PARTICIPANTS/MATERIALS, SETTING AND METHODS: Women with Turner karyotype were identified in the Swedish Genetic Turner Register. Data were obtained by using the unique personal identification number with cross linkage to the Swedish MBR, the Cause of Death Register, the National Patient Register and the Swedish Cancer Register. Hazard ratio (HR) with 95% confidence interval (CI) was used in the analysis of morbidity. MAIN RESULTS AND THE ROLE OF CHANCE: No mortality occurred in women with Turner karyotype and childbirth. Diseases of the circulatory system occurred more often in women with Turner syndrome under the age of 40 years compared with the MBR control group (HR 4.59; 95% CI 2.75-7.66) but was similar at or above the age of 40 years. Morbidity from circulatory diseases was increased before pregnancy (HR 3.83; 95% CI 1.02-14.43) and during pregnancy or within 1 year after (HR 5.78; 95% CI 1.94-17.24), but was similar after 1 or more years after delivery (HR 1.91; 95% CI 0.74-4.96). Aortic aneurysm occurred in 11/502 (2.2%) women with Turner karyotype and in three women (2.4%) during pregnancy. The long-term follow-up showed that aortic dissection was a common cause of death in young women with Turner karyotype without childbirth. A thorough cardiac evaluation before pregnancy in women with Turner karyotype is of utmost importance. LIMITATIONS, REASONS FOR CAUTION: Although this was a population-based registry study performed over a period of more than 20 years, a much longer follow-up and larger series are needed to assess rare events. The study also lacks information on phenotype and mode of conception in women with Turner karyotype. Women who gave birth probably represent a selection of healthier women with Turner karyotype. WIDER IMPLICATIONS OF THE FINDINGS: The high risk of aortic aneurysm in young women with Turner karyotype is in agreement with the literature. STUDY FUNDING/COMPETING INTEREST(S): No conflicts of interest exist. The study has been supported by grants from the Gothenburg Medical Society, the Medical Care executive Board of the Region Västra Götaland, grants from the ALF agreement at the Sahlgrenska University Hospital, the Hjalmar Svensson foundation, the Swedish Board of Health and Welfare, the Swedish Heart Lung Foundation and the Swedish Council for Working Life and Social Research. TRIAL REGISTRATION NUMBER: None.
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| 14. |
- Hagman, Anna, et al.
(författare)
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Obstetric Outcomes in Women with Turner Karyotype.
- 2011
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Ingår i: The Journal of clinical endocrinology and metabolism. - : The Endocrine Society. - 1945-7197 .- 0021-972X. ; 96:11, s. 3475-3482
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Tidskriftsartikel (refereegranskat)abstract
- Context: Women with Turner syndrome (TS) have high risk of cardiovascular complications and hypertensive disorders. Few studies have analyzed obstetric outcome in women with TS. Objective: This study compared obstetric outcome in women with TS karyotype with women in the general population. Design: The Swedish Genetic Turner Register was cross-linked with the Swedish Medical Birth Register between 1973 and 2007. Obstetric outcome in singletons was compared with a reference group of 56,000 women from the general population. Obstetric outcome in twins was described separately. Results: A total of 202 singletons and three sets of twins were born to 115 women with a TS karyotype that was unknown in 52% at time of pregnancy. At first delivery, TS women of singletons were older than controls (median 30 vs. 26 yr, P < 0.0001). Preeclampsia occurred in 6.3 vs. 3.0% (P = 0.07). Aortic dissection occurred in one woman. Compared with the general population, the gestational age was shorter in children born by TS women (-6.4 d, P = 0.0067), and median birth weight was lower (-208 g, P = 0.0012), but sd scores for weight and length at birth were similar. The cesarean section rate was 35.6% in TS women and 11.8% in controls (P < 0.0001). There was no difference in birth defects in children of TS women as compared with controls. Conclusions: Obstetric outcomes in women with a TS karyotype were mostly favorable. Singletons of TS women had shorter gestational age, but similar size at birth, adjusted for gestational age and sex. Birth defects did not differ between TS and controls.
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| 15. |
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| 16. |
- Hagman, Anna, et al.
(författare)
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Women who gave birth to girls with Turner syndrome: maternal and neonatal characteristics.
- 2010
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Ingår i: Human reproduction (Oxford, England). - : Oxford University Press (OUP). - 1460-2350 .- 0268-1161. ; 25:6, s. 1553-60
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: The aim was to identify maternal risk factors in women giving birth to girls with Turner syndrome (TS) and to describe the characteristics of newborns with TS. METHODS: The Swedish Genetic Turner Register was cross-linked with the Swedish Medical Birth Register. Between 1973 and 2005, 494 children with TS were born. Maternal age, parity, height, smoking habits and neonatal characteristics; mode of delivery, gestational age, size at birth and Apgar score, were compared with women in the general population who gave birth to girls during the same period. RESULTS: More women with advanced maternal age (40+) delivered girls with TS, 3.2% when compared with 1.8% in the general population [OR 1.83, 95% confidence interval (CI) 1.09-3.08, after adjustment for year of birth]. Maternal height was inversely associated with TS pregnancies (P = 0.005). Late preterm birth occurred in newborns with TS in 10.5% when compared with 4.8% in the general population (OR 2.23; 95% CI: 1.67-2.97, after adjustment for year of birth and maternal age). Newborns with TS had birthweight less than -2SD in 17.8% and birth length less than -2SD in 21.0% when compared with 3.5 and 3.4%, in the general population (OR 6.55; 95% CI: 5.12-8.38 and OR 8.69; 95% CI: 6.89-10.97, after adjustment for year of birth and maternal age). CONCLUSION: Advanced maternal age and short stature were risk factors for giving birth to a girl with TS. More TS girls were born late preterm and were smaller for gestational age than non-TS girls in the general population.
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| 17. |
- Landin-Wilhelmsen, Kerstin, 1952, et al.
(författare)
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Calcaneal ultrasound measurements are determined by age and physical activity. Studies in two Swedish random population samples.
- 2000
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Ingår i: Journal of internal medicine. - 0954-6820. ; 247:2, s. 269-78
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Tidskriftsartikel (refereegranskat)abstract
- AIM: To present reference values and correlations with body composition, blood variables and lifestyle factors. SUBJECTS: Two random population samples from Göteborg, Sweden, one comprising 184 men and 455 women aged 25-64 years (MONICA) and the other 860 women aged 55-82 years (BEDA) were studied. METHODS: Calcaneal ultrasound measurement (LUNAR Achilles) and bioimpedance were measured. Smoking habits, coffee consumption, physical activity, psychological stress, education and marital status, as well as blood lipids, blood pressure, and fractures were studied. RESULTS: Broadband ultrasound attenuation and stiffness were higher in men than in women (P < 0. 001), but speed of sound did not differ between sexes. Speed of sound, broadband ultrasound attenuation and stiffness decreased with age (P < 0.001). In both sexes speed of sound, broadband ultrasound attenuation and stiffness correlated positively to body size variables, and negatively with smoking in women after adjustment for age. Speed of sound, broadband ultrasound attenuation and stiffness were positively related to physical activity in both sexes, and these relationships were the only ones that remained in multivariate analyses in addition to age (negative). Osteoporotic fractures increased with age. Speed of sound, broadband ultrasound attenuation and stiffness were lower amongst women with osteoporotic fractures. CONCLUSION: Speed of sound, broadband ultrasound attenuation and stiffness decreased with age and increased with physical activity, but body weight and height were not correlated in multivariate analyses. Osteoporotic fractures increased with age and were associated with lower calcaneal ultrasound values.
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| 18. |
- Landin-Wilhelmsen, Kerstin, 1952, et al.
(författare)
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Cardiac malformations and hypertension, but not metabolic risk factors, are common in Turner syndrome.
- 2001
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Ingår i: The Journal of clinical endocrinology and metabolism. - 0021-972X. ; 86:9, s. 4166-70
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Tidskriftsartikel (refereegranskat)abstract
- Turner syndrome (TS) is caused by an X chromosome aberration and is characterized by endogenous estrogen deficiency secondary to ovarian dysgenesis and short stature. Our aim was to study the prevalence of cardiovascular malformations and cardiovascular risk factors (blood pressure, blood lipids and glucose, coagulation factors, social factors, smoking habits) in adults with Turner syndrome in comparison with a female random population sample. One hundred women with Turner syndrome (aged 16-71 yr) underwent physical examination, echocardiography, electrocardiography, and blood sampling. Seventy-one of them were matched for age [mean age, 33.7 +/- 11 yr (range, 25-64)] with a random population sample (n = 213) of women [mean age, 34.8 +/- 9 yr (range, 25-64)] from the World Health Organization's Monitoring of Trends and Determinants in Cardiovascular Diseases Project, Göteborg. Six percent of Turner syndrome women were smokers compared with 25% in the population (P < 0.001). Turner syndrome women were relatively heavier and had a lower degree of leisure time physical activity than controls (P < 0.001). Diabetes and treatment for hypertension were present in 3 and 22% among Turner syndrome women vs. 2% (not significant) and 3% (P < 0.001) in controls, respectively. Cardiovascular malformations were found among 17% in Turner syndrome women (45,X dominated) vs. 0.5% in controls (P < 0.001). Systolic but not diastolic blood pressure was higher in Turner syndrome women. No differences were seen in serum total cholesterol, high- or low-density lipoprotein cholesterol, triglycerides, lipoprotein (a), or plasma fibrinogen concentrations between patients and controls. Diabetes or hypertension was not related to karyotype. In conclusion, congenital cardiovascular malformations were frequent. Most cardiovascular risk factors (glucose and lipid levels, fibrinogen, smoking habits) were not increased, but hypertension was more common in Turner syndrome women.
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| 19. |
- Landin-Wilhelmsen, Kerstin, 1952, et al.
(författare)
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Insulin-like growth factor I levels in healthy adults.
- 2004
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Ingår i: Hormone research. - : S. Karger AG. - 0301-0163. ; 62 Suppl 1, s. 8-16
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Tidskriftsartikel (refereegranskat)abstract
- Insulin-like growth factor I (IGF-I) levels mainly reflect secretion of growth hormone (GH) in the body. The aims of this study were to compare different IGF-I assay methods in healthy individuals, test the reliability of the methods and discuss the utility of IGF-I measurement in adults. The Nichols Institute Diagnostics radioimmunoassay was used to evaluate IGF-I in two random population samples of men and women (aged 25-64 years, n = 392) taken 10 years apart, in 1985 and 1995. This method for IGF-I testing was also compared with an immunoradiometric assay (IRMA) method in 387 men and women participating in the World Health Organization MONICA (MONItoring of trends and determinants for CArdiovascular diseases) Project, Goteborg, Sweden, in 1995. Serum IGF-I decreased with increasing age in both men and women. IGF-I was higher in young women compared with young men in both cohorts, while the opposite was found in the highest age group. Age-adjusted significant correlations were found between IGF-I and smoking, fibrinogen, coffee consumption, lipoprotein (a), osteocalcin and IGF-binding protein 3. The two cohorts showed similar mean IGF-I concentrations irrespective of method. The correlation between the Nichols and the IRMA methods was high: r = 0.93 (p < 0.0001). Based on this and previous studies, population-based IGF-I measurements are robust irrespective of which commercially available method of assay is used. IGF-I levels can be used in diagnosing acromegaly as well as providing target values. IGF-I assay can be used as a complement to stimulation testing in the diagnosis of GH deficiency, and as a tool for GH dose titration.
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| 20. |
- Naessen, Sabine, et al.
(författare)
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Autoimmune Disease in Turner Syndrome in Sweden : An up to 25 Years' Controlled Follow-up Study
- 2024
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Ingår i: Journal of Clinical Endocrinology and Metabolism. - : Endocrine Society. - 0021-972X .- 1945-7197. ; 109:2, s. e602-e612
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Tidskriftsartikel (refereegranskat)abstract
- Context: Turner syndrome (TS) is the most common chromosomal aberration in women; it is the result of structural or numeric abnormalities in the X chromosome. Autoimmune hypothyroidism has been recognized as one of the more prominent disorders associated with TS.Objective: This work aimed to study the prevalence of autoimmune diseases in TS.Methods: A cross-sectional, longitudinal, 25-year follow-up study was conducted of patients from adult Turner centers at the University Hospitals, Sweden. During 1994 to 2020, a total of 503 women aged 16 to 71 years with TS were evaluated consecutively every fifth year according to national guidelines. A random population sample of women, n = 401, aged 25 to 44 years, from the World Health Organization Monitoring of Trends and Determinants for Cardiovascular Disease (MONICA) project served as controls. Serum thyrotropin, free thyroxine, vitamin B-12, antithyroid peroxidase (anti-TPO), and antitransglutaminase antibodies were measured.Results: Mean follow-up time (years) was 16 +/- 7 for patients and 13 +/- 1 for controls. From study start, the prevalence increased in TS for hypothyroidism 40% to 58%, vitamin B-12 deficiency 5% to 12%, celiac disease 4% to 7%, positive anti-TPO 26% to 41%, and antitransglutaminase antibodies 6% to 8% (P < .0001 vs controls). Type 1 diabetes and Addison disease were rare. The only interrelationship was between hypothyroidism and vitamin B-12 deficiency, both in TS and controls. No association between autoimmune disease and karyotype, antecedent growth hormone treatment, or ongoing estrogen hormone replacement, was seen in TS.Conclusion: In women with TS up to older than 80 years, more than half developed hypothyroidism, mainly autoimmune, during follow-up. Awareness of vitamin B-12 deficiency and celiac disease throughout life is also recommended in women with TS.
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| 21. |
- Osmancevic, Amra, 1968, et al.
(författare)
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Risk factors for osteoporosis and bone status in postmenopausal women with psoriasis treated with UVB therapy.
- 2008
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Ingår i: Acta dermato-venereologica. - 0001-5555. ; 88:3, s. 240-6
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Tidskriftsartikel (refereegranskat)abstract
- The aims of this study were to examine whether postmenopausal women with psoriasis who were exposed to regular ultraviolet light B (UVB) therapy had greater bone mineral density than women of similar age from the same region, and to estimate the influence of risk factors on bone status. A total of 35 randomly selected women, age (mean +/- SD) 69.3 +/- 6.29 years (age range 60-82 years), with active psoriasis, mean onset at 37.0 years (+/- 23.5 SD) were studied. The patients had been previously exposed to broadband or narrowband UVB. Age-matched, women (n = 2448) from Göteborg, examined at the Geriatric out-patient clinic during the years 2001 and 2002, were used as controls. Bone mineral density was examined by Dual-Energy X-ray Absorptiometry (Hologic Delphi A) at the hip and the lumbar spine. Medical history and lifestyle factors were assessed with a questionnaire. Postmenopausal women with psoriasis were found to have higher bone mineral density than age-matched controls. Higher body weight, physical activity and UVB exposure could explain this finding.
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| 22. |
- Osmancevic, Amra, 1968, et al.
(författare)
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Size of the exposed body surface area, skin erythema and body mass index predict skin production of vitamin D
- 2015
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Ingår i: Journal of Photochemistry and Photobiology B-Biology. - : Elsevier BV. - 1011-1344. ; 149, s. 224-229
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Tidskriftsartikel (refereegranskat)abstract
- Background: Cholecalciferol (vitamin D-3), produced in the skin by UVB irradiation (290-315 nm) of 7-dehydrocholesterol, is metabolized in the liver into 25-hydroxyvitamin D [25(OH)D] which is a major circulating metabolite. Aim: To examine changes in serum concentrations of cholecalciferol and its metabolites after UVB exposure of different skin areas. Methods: 21 healthy Caucasians (skin type II and III, aged 23-47 years) were exposed to broadband UVB (290-320 nm) and randomized to either exposure to one minimal erythema dose given as a single dose, or a suberythemic dose given for 3 subsequent days. The following areas were exposed: face and back of hands, upper half of the body and the whole body, respectively. Serum cholecalciferol and 25(OH)D were measured immediately before start and 24 h after the 1st and last exposure, respectively. Results: Subjects with whole body exposure had an average S-cholecalciferol increase per dose unit of 0.18 ng m1(-1) mJ(-1) cm(2), 0.95 CI: (0.16, 0.20), upper body treatment 0.13 ng ml(-1) mJ(-1) cm(2), 0.95 CI: (0.10, 0.15) and face and hands exposure 0.013 ng ml(-1) mJ(-1) cm(2), 0.95 CI: (-0.012, 0.037). The increase in cholecalciferol correlated positively to the UVB dose and skin erythema and negatively to body mass index (BMI) when controlling for other factors. Exposure of face and hands induces smaller cholecalciferol production in comparison with exposure of larger skin areas. Conclusion: Size of the exposed skin area, UVB dose, skin erythema and BMI were the major determinants for serum levels of skin synthesized cholecalciferol. Exposure of hands and face induces smaller cholecalciferol production in comparison with exposure of larger skin areas.
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| 23. |
- Osmancevic, Amra, 1968, et al.
(författare)
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UVB therapy increases 25(OH) vitamin D syntheses in postmenopausal women with psoriasis.
- 2007
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Ingår i: Photodermatology, photoimmunology & photomedicine. - : Wiley. - 0905-4383 .- 1600-0781. ; 23:5, s. 172-8
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Tidskriftsartikel (refereegranskat)abstract
- Keywords: bone mineral density;psoriasis;secondary hyperparathyroidism;UVB therapy;vitamin D Background: Vitamin D3 is produced in the epidermis by ultraviolet (UV) radiation (290–315 nm) of 7-dehydrocholesterol. A similar range of 290–320 nm (broadband UVB) has been successfully used for years to treat psoriasis. The aim of this study was to investigate whether UVB therapy was able to influence vitamin D synthesis in psoriasis patients. Methods: Twenty-four postmenopausal, white Caucasian women, aged 69±5.9 (mean±SD), with active plaque psoriasis, were treated with broadband UVB two to three times per week for 8–12 weeks. The serum concentrations of calcidiol (25(OH)D3), calcitriol (1,25(OH)2D3), intact parathyroid hormone (PTH), thyroid hormones, osteocalcin, calcium and creatinine were measured before the first and after the last dose of radiation. Bone density was measured using Dual-Energy X-ray Absorptiometry (Hologic Delphi A) at the hip and lumbar spine. Results: Serum levels of 25(OH)D3 increased from 36.8±17 ng/ml (mean±SD) to 59.6±18.7 ng/ml (P<0.001) after the UVB treatment period. Serum PTH decreased from 62.8±25.7 ng/l to 48.2±17.4 ng/l (P<0.001). Secondary hyperparathyroidism (PTH>65 ng/l) was revealed in seven patients (29%) in whom PTH values were suppressed by the UVB therapy. The serum levels of calcitriol, calcium, osteocalcin, thyroid hormones and creatinine were unaltered. Conclusion: UVB therapy in elderly psoriatic women improved psoriasis, increased serum 25(OH)D3 synthesis and reduced serum PTH concentrations.
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| 24. |
- Osmancevic, Amra, 1968, et al.
(författare)
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Vitamin D production after UVB exposure - A comparison of exposed skin regions.
- 2015
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Ingår i: Journal of photochemistry and photobiology. B, Biology. - : Elsevier BV. - 1873-2682 .- 1011-1344. ; 143, s. 38-43
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Tidskriftsartikel (refereegranskat)abstract
- Cholecalciferol is an essential steroid produced in the skin by solar ultraviolet B radiation (UVB 290-315nm). Skin production of cholecalciferol depends on factors affecting UVB flux, age and exposed skin area.
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| 25. |
- Osmancevic, Amra, 1968, et al.
(författare)
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Vitamin D production in psoriasis patients increases less with narrowband than with broadband ultraviolet B phototherapy.
- 2009
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Ingår i: Photodermatology, photoimmunology & photomedicine. - : Wiley. - 1600-0781 .- 0905-4383. ; 25:3, s. 119-23
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Tidskriftsartikel (refereegranskat)abstract
- Phototherapy of psoriasis is an effective treatment. In addition to standard broadband ultraviolet radiation B (UVB), (280-320 nm), narrowband phototherapy (NBUVB) (monochromatic UV between 311 and 312 nm) has become an important treatment for psoriasis. The same wavelength range of UVB (290-315 nm) induces synthesis of vitamin D. The aim was to compare the effect of broadband with NBUVB therapy on vitamin D synthesis in patients with psoriasis.
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