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- 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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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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| 3. |
- 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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| 4. |
- Ellegård, Lotta, et al.
(författare)
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Health-related quality of life in hypothyroidism-A population-based study, the WHO MONICA Project
- 2021
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Ingår i: Clinical Endocrinology. - : Wiley. - 0300-0664 .- 1365-2265. ; 95:1, s. 197-208
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Tidskriftsartikel (refereegranskat)abstract
- Objective To explore health-related quality of life (HRQoL) among subjects with hypothyroidism compared to subjects without hypothyroidism in the general population. HRQoL is important in clinical practice. Hypothyroidism is prevalent, mainly found in women, and increasing with age. Design Cohort study of random population sample. Patients Women and men, n = 414 (39-78 years) from the WHO MONICA project, Gothenburg, Sweden, participated. Hypothyroidism was defined as subjects having levothyroxine supplementation or serum thyroid-stimulating hormone (S-TSH) >4.2 mU/L. Measurements Health-related quality of life was measured with Psychological General Well-Being Index (PGWB), Nottingham Health Profile (NHP), Short Form 36 Health Survey (SF-36) and a single item self-rated health scale (0-100), and stress was rated 1-6. The results were adjusted for age, sex and comorbidity using analysis of covariance (ANCOVA). Results Hypothyroidism was found in 70 subjects (17%). They scored worse HRQoL than controls regarding Sleep (p < .001), Social isolation (p = .01) and Total NHP (p < .05), and had more medication in general 2.7 +/- 2.5 vs. 1.8 +/- 2.1, p < .05. Subjects with levothyroxine (n = 40) showed similar results as the total hypothyroid group. Subjects unaware of their newly detected elevated STSH (n = 30) showed lower HRQoL in Sleep (p < .01) and Pain (p < .05) in NHP. HRQoL was similar in subjects with and without positive thyroperoxidase antibodies (TPO-Ab) either in those with hypothyroidism (44% TPO-Ab) or controls (9% TPO-Ab). Conclusion Men and women with hypothyroidism in the general population reported having more issues with Sleep and Social isolation than those without hypothyroidism irrespective of TPO-Ab. Scores were similar in all of the other HRQoL domains measuredAQ5.
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| 5. |
- Kontogeorgos, Georgios, et al.
(författare)
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Normocalcaemic, vitamin D-sufficient hyperparathyroidism - high prevalence and low morbidity in the general population: A long-term follow-up study, the WHO MONICA project, Gothenburg, Sweden
- 2015
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Ingår i: Clinical Endocrinology. - : Wiley. - 0300-0664 .- 1365-2265. ; 83:2, s. 277-284
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Tidskriftsartikel (refereegranskat)abstract
- ObjectiveThere is limited knowledge about the natural history of normocalcaemic, vitamin D-sufficient hyperparathyroidism (nHPT). The aim was to study the prevalence of nHPT and its relation to morbidity. DesignCross-sectional and retrospective study at the Sahlgrenska University Hospital, Gothenburg, Sweden. SubjectsA random population of 608 men and women, age 25-64years, was studied in 1995 as part of the WHO MONICA study and reinvestigated in 2008 (n=410, of whom 277 were vitamin D sufficient). MeasurementsA serum intact parathyroid hormone (S-PTH) 60ng/l was considered as HPT, S-calcium 215-249mmol/l as normocalcaemia and S-25(OH)D50nmol/l as vitamin D sufficiency. Data on fractures, stroke and myocardial infarction were retrieved until 2013, that is a 17-year follow-up. ResultsThe prevalence of nHPT was 20% in 1995 (age 25-64) and 110% in 2008 (age 38-79). S-PTH was positively correlated with age and BMI. After adjustment for these variables, a high S-PTH level (60ng/l) at follow-up was associated with previously low S-25(OH)D, high osteocalcin, S-PTH and both past and presently treated hypertension. No relation was seen with creatinine, cystatin C, malabsorption markers, thyroid function, glucose, insulin, lipids, calcaneal quantitative ultrasound, fractures, myocardial infarction, stroke or death at follow-up. ConclusionsThis small random population study showed that nHPT was common, 11% at follow-up. Only one individual developed mild hypercalcaemia in 13years. Previous S-PTH was predictive of nHPT and hypertension was prevalent, but no increase in hard end-points was seen over a 17-year period.
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| 7. |
- Schmidt, Johanna, 1974, et al.
(författare)
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Body composition, bone mineral density and fractures in late postmenopausal PCOS women - A long-term follow-up study.
- 2012
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Ingår i: Clinical endocrinology. - : Wiley. - 1365-2265 .- 0300-0664. ; 77:2, s. 207-214
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE: Hyperandrogenism is one of the characteristic features of the polycystic ovary syndrome (PCOS). Androgens are important for bone mass. Studies on bone mineral density (BMD) and fractures in postmenopausal women with PCOS are lacking. The aim of this study was to investigate whether postmenopausal PCOS women differ from controls regarding body composition, BMD, and prevalence of fractures, and to compare PCOS women with controls regarding correlations between total BMD and sex hormones. DESIGN: A prospective 21-year follow-up study. Anthropometry, hormonal measurements and questionnaires were performed in 1987 and in 2008. Fractures were X-ray-verified. BMD measurements were performed in 1992, using single photon absorptiometry (SPA), and in 2008 using dual-energy X-ray absorptiometry (DXA), to also enable measurements of body composition. PATIENTS: Twenty-five PCOS women (Rotterdam criteria), aged 61-78 years, and 68 randomly allocated age-matched controls. MEASUREMENTS: Body composition, BMD, fractures and sex steroids. RESULTS: At follow-up, the postmenopausal women with PCOS maintained a higher free androgen index (FAI), but had similar body fat, lean mass and BMD compared with controls. The hip circumference increased only in PCOS women (p<0.01), during follow-up. The fracture incidence was similar to that of controls (56% vs. 41%, ns). In the controls, total BMD was positively correlated with oestradiol (R=0.322, P<0.01) and FAI (R=0.307, P<0.05), and negatively correlated with SHBG (R= -0.429, P<0.001), but not in the women with PCOS. CONCLUSIONS: Postmenopausal women with PCOS with persistently higher FAI had similar muscle mass, BMD and fracture incidence as controls during this long-term follow-up. © 2012 Blackwell Publishing Ltd.
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