Síndrome de Turner e polimorfismo genético: uma revisão sistemática

Revista Paulista de Pediatria - Tập 33 - Trang 363-370 - 2015
Alessandra Bernadete Trovó de Marqui1
1Universidade Federal do Triângulo Mineiro (UFTM), Uberaba, MG, Brasil

Tài liệu tham khảo

Turner, 1938, A syndrome of infantilism, congenital webbed neck, and cubitus valgus, Endocrinology., 23, 566, 10.1210/endo-23-5-566 Ullrich, 1930, Über typische Kombinationsbilder multipler Abartungen, Eur J Pediatr., 49, 271 Santos, 2010, Turner syndrome. From child to adult. A multidisciplinary approach, Acta Med Port., 23, 873 Carvalho, 2010, Turner syndrome: a pediatric diagnosis frequently made by non‐pediatricians, J Pediatr (Rio J)., 86, 121 Ford, 1959, A sex‐chromosome anomaly in a case of gonadal dysgenesis (Turner's syndrome), Lancet., 1, 711, 10.1016/S0140-6736(59)91893-8 Barros, 2009, The inclusion of new techniques of chromosome analysis has improved the cytogenetic profile of Turner syndrome, Arq Bras Endocrinol Metab., 53, 1137, 10.1590/S0004-27302009000900010 Jung, 2010, Diagnosis of Turner's Syndrome: the experience of the Rio de Janeiro State Institute of Diabetes and Endocrinology between 1970 and 2008, Rev Bras Mater Infant., 10, 117, 10.1590/S1519-38292010000100012 De Araújo, 2010, Clinical and cytogenetic aspects of the Turner syndrome in the Brazilian Western region, Rev Bras Ginecol Obstet., 32, 381 Carvalho, 2010, Cardiovascular and renal anomalies in Turner syndrome, Rev Assoc Med Bras., 56, 655, 10.1590/S0104-42302010000600012 Miguel Neto, 2011, Variables associated with diagnostic delay in Turner syndrome, Rev Paul Pediatr., 29, 67, 10.1590/S0103-05822011000100011 Oliveira, 2009, Y chromosome in Turner syndrome: review of the literature, Sao Paulo Med J., 127, 373, 10.1590/S1516-31802009000600010 Fonteles, 2011, Final height (FH) in Turner syndrome (TS): experience of 76 cases followed at the Pediatric Endocrinology Unit, Hospital de Clinicas. Federal University of Paraná, Arq Bras Endocrinol Metabol., 55, 318, 10.1590/S0004-27302011000500004 Negreiros, 2014, Pubertal development profile in patients with Turner syndrome, J Pediatr Endocrinol Metab., 27, 845 Strachan, 2012 Binder, 2006, The d3‐growth hormone (GH) receptor polymorphism is associated with increased responsiveness to GH in Turner syndrome and short small‐for‐gestational‐age children, J Clin Endocrinol Metab., 91, 659, 10.1210/jc.2005-1581 Binder, 2008, Homozygosity of the d3‐growth hormone receptor polymorphism is associated with a high total effect of GH on growth and a low BMI in girls with Turner syndrome, Clin Endocrinol (Oxf)., 68, 567, 10.1111/j.1365-2265.2007.03090.x Ko, 2010, The common exon 3 polymorphism of the growth hormone receptor gene and the effect of growth hormone therapy on growth in Korean patients with Turner syndrome, Clin Endocrinol (Oxf), 72, 196, 10.1111/j.1365-2265.2009.03681.x Alvarez-Nava, 2010, GHR and VDR genes do not contribute to the growth hormone (GH) response in GH deficient and Turner syndrome patients, J Pediatr Endocrinol Metab, 23, 773, 10.1515/jpem.2010.127 Baş, 2012, The exon 3‐deleted/full‐length growth hormone receptor polymorphism and response to growth hormone therapy in growth hormone deficiency and Turner syndrome: a multicenter study, Horm Res Paediatr., 77, 85, 10.1159/000335172 Braz, 2012, The interactive effect of GHR‐exon 3 and ‐202 A/C IGFBP3 polymorphisms on rhGH responsiveness and treatment outcomes in patients with Turner syndrome, J Clin Endocrinol Metab., 97, E671, 10.1210/jc.2011-2521 Braz, 2014, Genetic predictors of long‐term response to growth hormone (GH) therapy in children with GH deficiency and Turner syndrome: the influence of a SOCS2 polymorphism, J Clin Endocrinol Metab., 99, E1808, 10.1210/jc.2014-1744 Peralta López, 2011, Vitamin D receptor genotypes are associated with bone mass in patients with Turner syndrome, J Pediatr Endocrinol Metab., 24, 307 Peralta López, 2012, Association of vitamin D receptor gene Cdx2 polymorphism with bone markers in Turner syndrome patients, J Pediatr Endocrinol Metab., 25, 669 Sowińska-Przepiera, 2011, Association between ER‐α polymorphisms and bone mineral density in patients with Turner syndrome subjected to estroprogestagen treatment – a pilot study, J Bone Miner Metab., 29, 484, 10.1007/s00774-010-0247-3 Bianco, 2012, Analysis of vitamin D receptor gene (VDR) polymorphisms in Turner syndrome patients, Gynecol Endocrinol., 28, 326, 10.3109/09513590.2011.631630 Bianco, 2010, PTPN22 polymorphism is related to autoimmune disease risk in patients with Turner syndrome, Scand J Immunol., 72, 256, 10.1111/j.1365-3083.2010.02438.x Struwe, 2006, No evidence for angiotensin type 2 receptor gene polymorphism in intron 1 in patients with coarctation of the aorta and Ullrich‐Turner syndrome, Pediatr Cardiol., 27, 636, 10.1007/s00246-005-1049-6 Santos, 2006, Frequency of 677C → T and 1298A → C polymorphisms in the 5,10‐methylenetetrahydrofolate reductase (MTHFR) gene in Turner syndrome individuals, Genet Mol Biol., 29, 41, 10.1590/S1415-47572006000100008 Oliveira, 2008, Prevalence of the polymorphism MTHFR A1298C and not MTHFR C677T is related to chromosomal aneuploidy in Brazilian Turner Syndrome patients, Arq Bras Endocrinol Metabol., 52, 1374, 10.1590/S0004-27302008000800028 Oliveira, 2012, C677T and A1298C polymorphisms of MTHFR gene and their relation to homocysteine levels in Turner syndrome, Genet Test Mol Biomarkers., 16, 396, 10.1089/gtmb.2011.0222 Zinn, 2008, EFHC2 SNP rs7055196 is not associated with fear recognition in 45, X Turner syndrome, Am J Med Genet B Neuropsychiatr Genet., 147B, 507, 10.1002/ajmg.b.30625 Andrade, 2012, Polimorfismo GHRd3 e suas implicações na prática clínica, J Bras Med., 100, 41 Clayton, 2013, A pharmacogenomic approach to the treatment of children with GH deficiency or Turner syndrome, Eur J Endocrinol., 169, 277, 10.1530/EJE-13-0069 Stevens, 2014, Pharmacogenomics of insulin‐like growth factor‐I generation during GH treatment in children with GH deficiency or Turner syndrome, Pharmacogenomics J., 14, 54, 10.1038/tpj.2013.14 Wassenaar, 2009, Impact of the exon 3‐deleted growth hormone (GH) receptor polymorphism on baseline height and the growth response to recombinant human GH therapy in GH‐deficient (GHD) and non‐GHD children with short stature: a systematic review and meta‐analysis, J Clin Endocrinol Metab., 94, 3721, 10.1210/jc.2009-0425 Renehan, 2012, Growth hormone receptor polymorphism and growth hormone therapy response in children: a Bayesian meta‐analysis, Am J Epidemiol., 175, 867, 10.1093/aje/kwr408 Cleemann, 2009, Long‐term hormone replacement therapy preserves bone mineral density in Turner syndrome, Eur J Endocrinol., 161, 251, 10.1530/EJE-09-0020 Basit, 2013, Vitamin D in health and disease: a literature review, Br J Biomed Sci., 70, 161, 10.1080/09674845.2013.11669951 Gallicchio, 2008, Indução da puberdade e terapia de reposição hormonal na síndrome de Turner, Femina, 36, 677 Mortensen, 2012, Cardiovascular phenotype in Turner syndrome--integrating cardiology, genetics, and endocrinology, Endocr Rev., 33, 677, 10.1210/er.2011-1059 Donadille, 2012, Cardiovascular findings and management in Turner syndrome: insights from a French cohort, Eur J Endocrinol., 167, 517, 10.1530/EJE-12-0434 Wong, 2014, The prevalence of turner syndrome in girls presenting with coarctation of the aorta, J Pediatr., 164, 259, 10.1016/j.jpeds.2013.09.031 Czeizel, 2013, Folate deficiency and folic acid supplementation: the prevention of neural‐tube defects and congenital heart defects, Nutrients., 5, 4760, 10.3390/nu5114760 Locke, 2010, Variation in folate pathway genes contributes to risk of congenital heart defects among individuals with Down syndrome, Genet Epidemiol., 34, 613, 10.1002/gepi.20518 Wu, 2013, Folate metabolism gene polymorphisms MTHFR C677T and A1298C and risk for Down syndrome offspring: a meta‐analysis, Eur J Obstet Gynecol Reprod Biol., 167, 154, 10.1016/j.ejogrb.2012.11.022 Yang, 2013, Maternal gene polymorphisms involved in folate metabolism and the risk of having a Down syndrome offspring: a meta‐analysis, Mutagenesis., 28, 661, 10.1093/mutage/get045 Victorino, 2014, Meta‐analysis of Methylenetetrahydrofolate reductase maternal gene in Down syndrome: increased susceptibility in women carriers of the MTHFR 677T allele, Mol Biol Rep., 41, 5491, 10.1007/s11033-014-3424-y Rocha, 2007, Genetic polymorphisms: implications in the pathogenesis of medullary thyroid carcinoma, Arq Bras Endocrinol Metabol., 51, 723, 10.1590/S0004-27302007000500009