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- El-Mansoury, Mohamed Mostafa, 1953, et al.
(author)
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Impaired body balance, fine motor function and hearing in women with Turner syndrome.
- 2009
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In: Clinical endocrinology. - : Wiley. - 1365-2265 .- 0300-0664. ; 71:2, s. 273-8
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Journal article (peer-reviewed)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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| 2. |
- El-Mansoury, Mohamed Mostafa, 1953
(author)
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Turner syndrome. Relation between genotype and phenotype and long-term follow-up studies.
- 2009
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Doctoral thesis (other academic/artistic)abstract
- Turner syndrome (TS) is a chromosomal disorder with a prevalence of approximately 1/2 500 live female births. There is complete or partial absence of one of the two sex chromosomes, resulting in a genetic constellation of 45,X monosomy or 45,X/46,XX mosaic, respectively. In the present studies, using more accurate analysis with Fluorescence In Situ Hybridization (FISH), we investigated whether the international classification of the “genotype-phenotype correlation” should be different. TS women were compared with age-matched controls from the WHO MONICA study, carried out in Gothenburg, into cardiovascular risk factors and bone data. Stigmata were counted and balance and hearing were tested. Mosaics had fewer stigmata, no aortic dissection, were diagnosed 8 years later, had better balance and fine motor function and fewer cardiovascular risk factors compared with 45,X monosomy. The 45,X/46,XX mosaics were, thus, more similar to controls. Mosaicism mitigated stigmata and the cardiovascular and fracture risk factor profile in TS. Hypothyroidism and elevated liver enzymes are common in TS but no prospective studies have been performed. Thyroid function and liver enzymes were studied in TS patients during five years. The prevalence of hypothyroidism was 23% with an annual incidence of 3.2%, and the corresponding figures for elevated liver enzymes were 36% and 3.4%, respectively. Hypothyroidism was not associated with karyotype, family history or other metabolic factors but elevated thyroid peroxidase (TPO) antibodies were found in almost half of the TS cases with hypothyroidism. The most prevalently increased liver enzyme was gamma glutamyl transferase (GT) which was correlated with serum cholesterol, independently of obesity, waist/hip ratio and glucose level, but not with serum estradiol. Every third TS woman developed hypothyroidism at five years and those with elevated TPO were at highest risk. Annual thyroid function control is mandatory. More than every second TS woman had elevated liver enzymes at five years. The elevated liver enzymes were benign. Estrogen replacement can be continued in TS.
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