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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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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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