Low bone mineral density and renal malformation in Mexican patients with Turner syndrome are associated with single nucleotide variants in vitamin D-metabolism genes

Barrientos-Ríos, Rehotbevely; Frı́as, Sara; Velázquez-Aragón, José A.; Villaroel, Camilo E; Sánchez, Sílvia; Molina, Bertha; Martínez, Angélica; Carnevale, Alessandra; García-de-Teresa, Benilde; Bonilla, Edmundo; Alvarado-Araiza, Christian David; Valderrama-Hernández, Alejandro; Ríos-Gallardo, Paul Tadeo; Calzada‐León, Raúl; Altamirano-Bustamante, Nelly; Torres, Leda

doi:10.1080/09513590.2019.1582626

Cited by 6 publications

(3 citation statements)

References 29 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…CYP27B1 has significant impact on bone mineralization and metabolism, so it shows influence on the TS-characteristic phenotype. The same study also revealed gene–gene interaction between variants of KL, CYP27B1 and VDR in TS-patients, which also have a significant matter for BMD [ 57 ]. BMD results were independent of the use of GHT and ERT, which indicates that the problem of osteopenia and osteoporosis in TS patients is a multifactorial and complex problem.…”

Section: Discussionmentioning

confidence: 99%

Effect of Growth Hormone and Estrogen Replacement Therapy on Bone Mineral Density in Women with Turner Syndrome: A Meta-Analysis and Systematic Review

Szybiak,

Kujawa,

Miedziaszczyk

et al. 2023

Pharmaceuticals

View full text Add to dashboard Cite

Osteoporosis is a serious implication of Turner syndrome (TS). Common methods for the treatment of TS are growth hormone (GHT) and estrogen replacement therapy (ERT). We examined the relationship between the treatment of TS and bone mineral density (BMD) of the lumbar spine. The purpose of our study was to show the currency of BMD states among patients with TS for treatment with GHT and ERT. We searched databases for studies published from inception to April 2023. The articles were related to TS, osteoporosis, ERT, GHT, BMD and treatment patients with TS. We applied the selection criteria: lumbar spine values at L1–L4; dual-energy X-ray absorptiometry (DXA); treatment which was applied: one group of articles: ERT and two group of articles: GHT; results performed as means ± SD. In total, 79 articles were analyzed, of which 20 studies were included and 5 were considered for meta-analysis. The total number of women in the articles selected was 71. Based on the results of the meta-analysis, the effect of ERT on BMD demonstrated a significant increase in BMD (the standardized mean difference in the random model was 0.593 g/cm2, 95% CI: 0.0705 to 1.116; p = 0.026), which showed that treatment with estrogen particularly increases bone mass during treatment, which contributes to reducing the risk of fractures. The effect of GHT on BMD demonstrated a non-significant decrease in BMD in patients with TS. The results for growth hormone show that this therapy does not improve bone density. However, our review emphasizes the beneficial effect of supplementing growth hormone (GH) on the clinical presentation of TS.

show abstract

Section: Discussionmentioning

confidence: 99%

Effect of Growth Hormone and Estrogen Replacement Therapy on Bone Mineral Density in Women with Turner Syndrome: A Meta-Analysis and Systematic Review

Szybiak,

Kujawa,

Miedziaszczyk

et al. 2023

Pharmaceuticals

View full text Add to dashboard Cite

show abstract

“…Additionally, in Mexico, a significant association was observed between the rs9536282 variant of the Klotho (KL) membrane gene and renal malformation, as well as between the rs4646536 polymorphism of the cytochrome P450 family 27 subfamily 27 member 1 (CYP27B1) gene and low bone mineral density. The authors also identified gene-gene interactions among the variants of the KL, CYP27B1, and vitamin D receptor (VDR) genes associated with vitamin D metabolism and a low bone mineral density in TS patients 24 . We should mention that while these polymorphisms may vary between populations, as in the case of the PTPN22 gene between the Brazilian and Mexican TS populations, they may influence the phenotypic differences reported in women with TS and could serve as a reference for individualized therapy in these patients regarding the development of autoimmune diseases in adulthood.…”

Section: Regarding Single Nucleotide Polymorphisms (Snps) Associated ...mentioning

confidence: 99%

Molecular mechanisms of early development of 45,X0 embryos (Turner syndrome)

Espinosa-Ahedo

2024

PERE

View full text Add to dashboard Cite

show abstract

“…Additionally, girls with TS have altered bone geometry; Nissen et al noted TS patients had a smaller bone area of the forearm and increased size of the proximal hip, as compared with controls. 61 Although skeletal dysmorphogenesis has not been defined in TS patients, there are inherent bony abnormalities secondary to causes such as POI and hypoestrogenism, SHOX gene abnormalities, 61 and vitamin D gene polymorphisms, 62,63 which increase bone fragility.…”

Section: Turner's Syndromementioning

confidence: 99%

Musculoskeletal Health in Premature Ovarian Insufficiency. Part Two: Bone

et al. 2020

View full text Add to dashboard Cite

Accelerated bone loss and muscle loss coexist in women with premature ovarian insufficiency (POI), but there are significant gaps in our understanding of musculoskeletal health in POI. This review describes estrogen signaling in bone and its role in skeletal health and disease. Possible mechanisms contributing to bone loss in different forms of POI and current evidence regarding the utility of available diagnostic tests and therapeutic options are also discussed. A literature review from January 2000 to March 2020 was conducted to identify relevant studies. Women with POI experience significant deterioration in musculoskeletal health due to the loss of protective effects of estrogen. In bone, loss of bone mineral density (BMD) and compromised bone quality result in increased fracture risk; however, tools to assess bone quality such as trabecular bone score (TBS) need to be validated in this population. Timely initiation of HRT is recommended to minimize the deleterious effects of estrogen deficiency on bone in the absence of contraindications; however, the ideal estrogen replacement regimen remains unknown. POI is associated with compromised bone health, regardless of the etiology. Ongoing research is warranted to refine our management strategies to preserve bone health in women with POI.

show abstract

Low bone mineral density and renal malformation in Mexican patients with Turner syndrome are associated with single nucleotide variants in vitamin D-metabolism genes

Cited by 6 publications

References 29 publications

Effect of Growth Hormone and Estrogen Replacement Therapy on Bone Mineral Density in Women with Turner Syndrome: A Meta-Analysis and Systematic Review

Effect of Growth Hormone and Estrogen Replacement Therapy on Bone Mineral Density in Women with Turner Syndrome: A Meta-Analysis and Systematic Review

Molecular mechanisms of early development of 45,X0 embryos (Turner syndrome)

Musculoskeletal Health in Premature Ovarian Insufficiency. Part Two: Bone

Contact Info

Product

Resources

About