Monitoring and maintaining bone health in patients with Turner syndrome

Chiarito, Mariangela; Brunetti, Giacomina; Damato, G.; Faienza, Maria Felicia

doi:10.1080/17446651.2020.1834846

Cited by 8 publications

(8 citation statements)

References 83 publications

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“…Bone health depend on the correct balance between deposition of new bone by osteoblasts (OBs) and resorption from osteoclasts (OCs); the former is mainly regulated by Wnt/β-catenin pathway, the latter by the receptor activator of NF-kB (RANK)/RANK ligand (RANKL)/ osteoprotegerin (OPG) axis [6,7]. Multiple factors are responsible for bone impairment in people with TS, as well as estrogen deficiency, haploinsufficiency of X chromosome genes, alterations in vitamin D metabolism, and comorbidities frequently associated with TS and other chromosomopathies, such as autoimmune diseases [8][9][10]. In a previous study we demonstrated an enhanced osteoclastogenesis due to high levels of circulating FSH in TS girls before hormonal replacement therapy (HRT).…”

Section: Introductionmentioning

confidence: 99%

Role of Wnt-signaling inhibitors DKK-1 and sclerostin in bone fragility associated with Turner syndrome

Chiarito

Piacente

Chaoul

et al. 2022

J Endocrinol Invest

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Purpose Girls affected with Turner syndrome (TS) present with low bone mineral density (BMD) and osteopenia/osteoporosis. Thus, they have an increased risk to develop fractures compared to normal population. The aim of this study was to deepen the pathophysiology of skeletal fragility in TS subjects by evaluating the serum levels of Dickkopf-1 (DKK-1) and sclerostin, main regulators of bone mass, as well as the percentage of circulating osteoblast precursors (OCPs). Methods Thirty-four TS girls and 24 controls were recruited. All subjects underwent anthropometric measures (height, weight, body mass index-BMI). A peripheral venous blood sample was collected to determine serum levels of active intact parathyroid hormone (PTH), 25-OH vitamin D, calcium, phosphorus, bone alkaline phosphatase (bALP), osteocalcin, sclerostin, DKK-1, RANKL and OPG. OCPs were detected by flow cytometry. In TS subjects bone mineralization was measured at lumbar spine by dual energy X-ray absorptiometry (DXA). Results bALP, 25-OH Vitamin D, and osteocalcin levels were significant lower in TS subjects than in the controls. Statistically significant higher levels of sclerostin, DKK-1 and RANKL were measured in patients compared with the controls. The percentage of OCPs did not show significant differences between patients and controls. Sclerostin and DKK-1 levels were related with anthropometric parameters, bone metabolism markers, HRT, rhGH therapy, RANKL and lumbar BMAD-Z-score. Conclusion TS patients showed higher levels of sclerostin and DKK-1 than controls which can be related to HRT, and to reduced bone formation markers as well as the increased bone resorption activity.

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Section: Introductionmentioning

confidence: 99%

Role of Wnt-signaling inhibitors DKK-1 and sclerostin in bone fragility associated with Turner syndrome

Chiarito

Piacente

Chaoul

et al. 2022

J Endocrinol Invest

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“…In addition, follicle stimulating hormone (FSH) also participates in the process of bone metabolism, which is able to affect the formation and activity of osteoclasts by binding to the FSH receptor expressed on osteoclasts or enhancing the production of the pro-osteoclastogenic cytokine tumor necrosis factor-α (TNF-α). High FSH serum level may be detected in the prepubertal period of patients with TS [ 7 ]. But for the patient, this could not be observed due to aging.…”

Section: Discussionmentioning

confidence: 99%

“…The SHOX gene, which is located at the pseudoautosomal region of sex chromosomes, is known as one of the major causes of intrinsic bone abnormalities. SHOX deficiency leads to short stature, short neck and bone geometry changes, in particular for cortical density reduction, which is a common feature of bone fragility in TS [ 7 ]. It is noted that typical short stature itself cannot predispose TS patients to fractures.…”

Section: Discussionmentioning

confidence: 99%

A patient with Turner syndrome received the percutaneous vertebroplasty seven times: a case report and literature review

Shi

Zhao

et al. 2021

Eur J Med Res

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Background Turner syndrome (TS) is characterized as the complete or partial absence of one X chromosome and is an extremely rare disease affecting approximately 1:2500 live female births. Though the prevalence of osteoporosis among women with TS is estimated to be around 55–64% and they suffer more frequently from fractures than normal, few reports concerning TS patients with osteoporosis are able to be seen due to tiny number of patients. Case presentation Here, we report a rare case of TS with osteoporosis, who has undergone percutaneous vertebroplasty (PVP) seven times because of several vertebral compression fractures (VCFs). G-banded karyotype analysis was performed and the result was 45,X[43]/47,XXX[17], indicating that the patient was a mosaicism of TS karyotype and Trisomy X syndrome karyotype. TS is the underlying cause of low level of estrogen for this patient. The interaction of aging, estrogen deficiency and intestinal dysbacteriosis leads to her severe osteoporosis and multi-segmental VCFs. The aim of this report is to provide recommendations regarding the management of TS patients with osteoporosis by reviewing the clinical presentation of TS, the influence of estrogen deficiency in osteoporosis, etc. Conclusions Early diagnosis and hormone replacement treatment are essential for TS patients to prevent osteoporosis and reduce the risk of fractures. This is a rare case report describing TS patient with severe osteoporosis and VCFs.

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“…Elevated follicle-stimulating hormone (FSH) is also associated with decreased BMD in TS patients ( 6 ). FSH decreases bone density by directly binding to FSH receptors on osteoclasts and indirectly by promoting the production of TNF-α, which in turn promotes the production of osteoclasts ( 30 , 31 ).…”

Section: High Fracture Risk In Turner Syndromementioning

confidence: 99%

“…Numerous, previous studies and reviews have reported the characteristics of fractures in TS ( 2 , 3 , 6 ), which are caused by estrogen deficiency, a high risk of falling, X chromosomal abnormalities, and comorbidities of TS ( 6 , 7 ). In particular low bone mineral density (BMD) stemming from estrogen deficiency is associated with an increased risk of fractures.…”

Section: Introductionmentioning

confidence: 99%

Fracture risk, underlying pathophysiology, and bone quality assessment in patients with Turner syndrome

Ikegawa

Hasegawa

2022

Front. Endocrinol.

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Turner syndrome (TS), the most common type of X chromosomal disorder, has various, clinical manifestations. Among these, primary hypogonadism, which may lead to osteoporosis, is a life-long health issue. A high prevalence of fractures associated with osteoporosis is a major problem in patients with TS, where it may be 1.4-2.2 times higher than in healthy individuals and increases with age.Among the risk factors associated with fractures in TS, hypogonadism is arguably the most important. Estrogen deficiency due to hypogonadism leads to low bone mineral density (BMD), resulting in a high prevalence of bone fractures. Estrogen replacement therapy (ERT) in patients with TS reportedly improved their BMD. However, other causes of low BMD may exist, given that this condition begins in the prepubertal period in patients with TS.Most previous studies have reported low BMD in patients with TS using dual-energy X-ray absorptiometry (DXA), but this method has some limitations. Areal BMD values assessed by DXA were influenced by bone size and short stature, resulting in an underestimation of BMD. Currently, volumetric BMD values may be accurately obtained using peripheral quantitative computed tomography (pQCT). pQCT, high-resolution pQCT, and the trabecular bone score can also be used to evaluate bone quality, including bone geometry and microarchitecture, in TS.The present review discusses the high fracture risk, role of estrogen deficiency in low BMD, advantages and disadvantages of various bone assessment methods, and characteristics of bone quality in TS.

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Monitoring and maintaining bone health in patients with Turner syndrome

Cited by 8 publications

References 83 publications

Role of Wnt-signaling inhibitors DKK-1 and sclerostin in bone fragility associated with Turner syndrome

Role of Wnt-signaling inhibitors DKK-1 and sclerostin in bone fragility associated with Turner syndrome

A patient with Turner syndrome received the percutaneous vertebroplasty seven times: a case report and literature review

Fracture risk, underlying pathophysiology, and bone quality assessment in patients with Turner syndrome

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