Morbidity in Turner Syndrome

Gravholt, Claus Højbjerg; Juul, Svend; Naeraa, Rune Weis; Hansen, Janne Hedegaard

doi:10.1016/s0895-4356(97)00237-0

Cited by 490 publications

(496 citation statements)

References 76 publications

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“…Although no prospective studies on fracture risk in TS patients are available, an epidemiological study found a 2.5-fold increase in risk of potential osteoporotic fractures, (10) whereas a 35% increase in risk of all fractures was found in a retrospective study using questionnaires. (11) Similarly, a clinical study reported an increased risk of fracture in TS individuals aged more than 45 years compared to a random population sample (odds ratio, 19.3; 95%CI, 4.1-88.6).…”

Section: Discussionmentioning

confidence: 96%

“…These findings may explain the considerably higher risk of fractures seen in TS in epidemiological studies. (10) A study of bone morphology in TS is coupled with methodological challenges rising from the skeletal divergences between TS patients and 46,XX individuals. (8) To accommodate for the disproportional size and possible distal limb anomalies, we performed a separate analysis of bone morphological parameters using a height-matched ROI in addition to the standard full-scan ROI HR-pQCT analysis.…”

Section: Discussionmentioning

confidence: 99%

“…(7)(8)(9) Although there are no prospective studies of the risk of fracture in TS, an epidemiological study showed that fractures are seen more often in TS in the metacarpal bones, as well as at the typical osteoporotic predilection sites-the femoral neck, the lower spine and forearm-and potential osteoporotic fractures are 2.5-fold more likely to occur. (10) In addition, a questionnaire study in a population with a median age of 30 years showed a 35% increased risk of fractures compared to the general population. (11) It is most likely that insufficient treatment with hormone replacement therapy (HRT) is the cause of the increased fracture risk in TS, (12) combined with frequent hearing impairment and low BMD.…”

Section: Introductionmentioning

confidence: 99%

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Compromised trabecular microarchitecture and lower finite element estimates of radius and tibia bone strength in adults with turner syndrome: A cross-sectional study using high-resolution–pQCT

Hansen

Brixen

Gravholt

2012

Journal of Bone and Mineral Research

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Although bone mass appear ample for bone size in Turner syndrome (TS), epidemiological studies have reported an increased risk of fracture in TS. We used high-resolution peripheral quantitative computed tomography (HR-pQCT) to measure standard morphological parameters of bone geometry and microarchitecture, as well as estimated bone strength by finite element analysis (FEA) to assess bone characteristics beyond bone mineral density (BMD) that possibly contribute to the increased risk of fracture. Thirty-two TS patients (median age 35, range 20-61 years) and 32 healthy control subjects (median age 36, range 19-58 years) matched with the TS participants with respect to age and body-mass index were studied. A full region of interest (ROI) image analysis and a height-matched ROI analysis adjusting for differences in body height between groups were performed. Mean bone cross-sectional area was lower in TS patients in radius (À15%) and tibia (À13%) (both p < 0.01) whereas cortical thickness was higher in TS patients in radius (18%, p < 0.01) but not in tibia compared to controls. Cortical porosity was lower in TS patients at both sites (À32% in radius, À36% in tibia, both p < 0.0001). Trabecular integrity was compromised in TS patients with lower bone volume per tissue volume (BV/TV) (À27% in radius, À22% in tibia, both p < 0.0001), trabecular number (À27% in radius, À12% in tibia, both p < 0.05), and higher trabecular spacing (54% in radius, 23% in tibia, both p < 0.01). In the height-matched ROI analysis, differences remained significant apart from total area at both sites, cortical thickness in radius, and trabecular number in tibia. FEA estimated failure load was lower in TS patients in both radius (À11%) and tibia (À16%) (both p < 0.01) and remained significantly lower in the height-matched ROI analysis. Conclusively, TS patients had compromised trabecular microarchitecture and lower bone strength at both skeletal sites, which may partly account for the increased risk of fracture observed in these patients. ß

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Section: Discussionmentioning

confidence: 96%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Compromised trabecular microarchitecture and lower finite element estimates of radius and tibia bone strength in adults with turner syndrome: A cross-sectional study using high-resolution–pQCT

Hansen

Brixen

Gravholt

2012

Journal of Bone and Mineral Research

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“…11,12 Short stature is almost universal. 13 Additional features are common [14][15][16][17][18][19][20] and are listed in Table 1. Interestingly, the individual's phenotype appears to be dependent on the exact genotype and even the parental origin of the remaining X chromosome.…”

Section: Systemic Featuresmentioning

confidence: 99%

Ophthalmic features of Turner's syndrome

Denniston

Butler

2004

Eye

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Turner's syndrome is one of the most common of all chromosomal abnormalities and is associated with significant ophthalmic morbidity. Turner's 1938 account included two patients with strabismus, and hitherto the condition has generated more interest among orthoptists than ophthalmologists. This systematic review of the literature seeks to redress the balance. Based on the pooled data of 274 patients with Turner's syndrome, it is the most complete evaluation so far of the prevalence and severity of ophthalmic problems in this population. This includes both a systematic review of the ophthalmic literature (via Medline) and the much larger body of work available in the orthoptic literature. Finally, we consider recent progress that enables the ophthalmologist to progress from the simple recognition of a phenotype to the correlation of genotypic variations with embryogenesis and consequent features of that phenotype.

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“…It has previously been suggested that androgens might mediate the difference, 57,58 and certainly they are plausible candidates as factors that link birth weight, insulin resistance and gender. Alternatively, one genomewide study of genes for diabetes (the GENNID study) has identified a locus on the X chromosome that appears to be linked to diabetes and glucose intolerance (map position 130 cM, LOD score 2.99), 59 and subjects with Turner's syndrome (karyotype XO) have a high risk of T2D (relative risk 4.4 in one large study 60 ).…”

Section: Introductionmentioning

confidence: 99%

The gender insulin hypothesis: why girls are born lighter than boys, and the implications for insulin resistance

Wilkin

Murphy

2006

Int J Obes

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Girls are born lighter than boys. The consistency of this observation across different populations is striking, suggesting that it may have fundamental significance for those conditions linked with lower birth weight, such as diabetes. Previous hypotheses relating low birth weight to subsequent diabetes have addressed differences in insulin resistance within the sexes, not between them. Here, we propose that gender-specific genes affecting insulin sensitivity are responsible for the gender difference in birth weight -the genetically more insulin resistant female fetus is less responsive to the trophic effects of insulin and is therefore smaller. These genes also render female subjects more susceptible to diabetes, explaining why reports of type 2 diabetes (T2D) in younger populations show a female preponderance. Consistent with our proposal, concentrations of insulin and/or its propeptides are higher at birth in female populations and they are intrinsically more insulin resistant throughout life, with attendant impact on their metabolism, and the regressions describing the relationship between insulin resistance and adiposity in female and male subjects have similar gradients, but different constants. These gender-specific genes have a demonstrable impact on fetal growth and insulin resistance. Diabetes and cardiovascular disease are thought to be driven by insulin resistance, and the observations reported here may help to focus the search for genes that control it.

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Morbidity in Turner Syndrome

Cited by 490 publications

References 76 publications

Compromised trabecular microarchitecture and lower finite element estimates of radius and tibia bone strength in adults with turner syndrome: A cross-sectional study using high-resolution–pQCT

Compromised trabecular microarchitecture and lower finite element estimates of radius and tibia bone strength in adults with turner syndrome: A cross-sectional study using high-resolution–pQCT

Ophthalmic features of Turner's syndrome

The gender insulin hypothesis: why girls are born lighter than boys, and the implications for insulin resistance

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