Bone Fragility in Turner Syndrome: Mechanisms and Prevention Strategies

Faienza, Maria Felicia; Ventura, Alessandro; Colucci, Silvia; Grano, Maria; Brunetti, Giacomina

doi:10.3389/fendo.2016.00034

Cited by 38 publications

(37 citation statements)

References 95 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…In this study, there were no differences in the BMD reduction rate between groups over 150 cm and below 150 cm. It might be necessary to correct the partial volume effect due to body size using peripheral Quantitative CT (pQCT) which allow precise measurement of threedimensional bone density [43].…”

Section: Discussionmentioning

confidence: 99%

Prevalence of diverse complications and its association with karyotypes in Japanese adult women with Turner syndrome—a questionnaire survey by the Foundation for Growth Science—

et al. 2018

View full text Add to dashboard Cite

The reported prevalence of complications in Turner Syndrome (TS) was highly variable because of the rarity and the limited numbers analyzed. Again, possible presence of other complications that are not described as specific for TS, is also speculated. To resolve these issues, a questionnaire survey was conducted in hGH treated 492 patients with adult TS (17-42 years). The possible association with these complications and karyotypes were also analyzed. The complications and their prevalence were as follows: chronic thyroiditis (25.2%), inflammatory bowel disease (1.8%), congenital cardiovascular anomaly (11.8%), urinary tract malformation (11.8%), low bone mineral density (BMD) (42.9%), scoliosis (8.4%), hearing loss (6.2%), epilepsy (2.8%) and schizophrenia (0.9%). The majority of prevalence of these diseases in TS was higher than in the general population. In distribution, the most frequent karyotype was 45,X monosomy (28.9%), followed by 45,X/46,X,Xi (16.9%), 46,X,Xi (9.1%), and 45,X/46,XX (6.3%), while other mosaic 45,X was noted in 29.9%. Regarding the karyotype, cardiovascular anomaly was more frequent in the 45,X group and less in the 46,X,Xi group. Urinary tract malformation and epilepsy were frequently associated with the chromosome 45,X. The prevalence of low BMD was noticed more in the chromosome 46,X,Xi and 45,X/46,X,Xi, and less in other mosaic 45,X. In conclusion, the more exact prevalence of diverse complications was clarified and it exceeded the prevalence of the majority of complications in general population. As novel findings, it was observed that the prevalence of epilepsy was significantly high, and epilepsy and low BMD were frequently associated with the specific karyotypes.

show abstract

Section: Discussionmentioning

confidence: 99%

Prevalence of diverse complications and its association with karyotypes in Japanese adult women with Turner syndrome—a questionnaire survey by the Foundation for Growth Science—

et al. 2018

View full text Add to dashboard Cite

show abstract

“…The reason for this distribution might be that BUA was found to be more sensitive to weight and vitamin D status25, while AD-SOS in elder women showed stronger negative correlation with age, who present lower estrogen levels, like TS patients. Furthermore, alterations in both BUA and AD-SOS measurements have different genetic and environmental risk factors6262728.…”

Section: Discussionmentioning

confidence: 99%

“…Girls with TS frequently show features of short stature4 and higher fracture susceptibility5. The bone fragility observed in patients with TS may be due to X-chromosome abnormalities or estrogen deficiency, and is likely a combination of the two6.…”

mentioning

confidence: 99%

Body composition and bone mineral status in patients with Turner syndrome

Shi

Liu

et al. 2016

Sci Rep

View full text Add to dashboard Cite

Turner syndrome (TS) is associated with decreased bone mineral density and increased fracture rate. However, the developmental trajectory of bone density or body composition in patients with TS is still unclear. The present study tested the hypothesis that different karyotypes and/or age contributes to abnormal body composition and decreased bone mineral status parameters in patients with TS. This study included 24 girls with TS, in which 13 girls exhibited X0 karyotype and 11 had mosaicism. Quantitative ultrasound (QUS) assessed the bone mineral status of the calcaneus, including bone mineral density (BMD), amplitude-dependent speed of sound (AD-SOS), broadband ultrasound attenuation (BUA) and InBody 770 assessed body composition. Pearson’s test was performed to correlate measured parameters with patient age. The body composition and bone mineral status parameters were not significantly influenced by patient karyotype. There was a correlation between patient age and AD-SOS (r = −0.61, P = 0.002) and BUA (r = 0.50, P = 0.013) but not BMD (r = −0.19, P = 0.379). In conclusion, there was no effect of karyotype on body composition or body mineral status. Bone mineral status, as evidenced by changes in AD-SOS and BUA, alters with age regardless of karyotype. The developmental trajectory demonstrated in the current study warrants further validation in a longitudinal study.

show abstract

“…Karyotyping represents the initial test for major chromosomal abnormalities including aneuploidy or large insertions, deletions, duplications, inversions or reciprocal translocations, but has a resolution limited to ~5–10 Mb of DNA (Table ) . It retains an important place in the diagnosis of Turner and Klinefelter syndrome, each of which may manifest a form of osteoporosis . Fluorescence in‐situ hybridization (FISH) employs DNA probes that hybridize to specific target regions, which allow the detection of specific chromosomal deletions, duplications, translocations or inversions (Table ).…”

Section: Clinical Approach To the Patient With A Metabolic Bone Diseasementioning

confidence: 99%

Genetic approaches to metabolic bone diseases

Hannan

Newey

Whyte

et al. 2018

Brit J Clinical Pharma

View full text Add to dashboard Cite

Metabolic bone diseases comprise a diverse group of disorders characterized by alterations in skeletal homeostasis, and are often associated with abnormal circulating concentrations of calcium, phosphate or vitamin D metabolites. These diseases commonly have a genetic basis and represent either a monogenic disorder due to a germline or somatic single gene mutation, or an oligogenic or polygenic disorder that involves variants in more than one gene. Germline single gene mutations causing Mendelian diseases typically have a high penetrance, whereas the genetic variations causing oligogenic or polygenic disorders are each associated with smaller effects with additional contributions from environmental factors. Recognition of familial monogenic disorders is of clinical importance to facilitate timely investigations and management of the patient and any affected relatives. The diagnosis of monogenic metabolic bone disease requires careful clinical evaluation of the large diversity of symptoms and signs associated with these disorders. Thus, the clinician must pursue a systematic approach beginning with a detailed history and physical examination, followed by appropriate laboratory and skeletal imaging evaluations. Finally, the clinician must understand the increasing number and complexity of molecular genetic tests available to ensure their appropriate use and interpretation.

show abstract

Bone Fragility in Turner Syndrome: Mechanisms and Prevention Strategies

Cited by 38 publications

References 95 publications

Prevalence of diverse complications and its association with karyotypes in Japanese adult women with Turner syndrome—a questionnaire survey by the Foundation for Growth Science—

Prevalence of diverse complications and its association with karyotypes in Japanese adult women with Turner syndrome—a questionnaire survey by the Foundation for Growth Science—

Body composition and bone mineral status in patients with Turner syndrome

Genetic approaches to metabolic bone diseases

Contact Info

Product

Resources

About