Turner syndrome. Our experience in develop the institutional registry and the multidisciplinary unit at italian hospital of buenos aires A first step to the best women health follow-up
Article Sidebar
Main Article Content
Abstract
Turner syndrome (TS) results from the complete or partial absence of the second sex chromosome in female phenotypes. It has an incidence of 1: 2000-2500 girls born alive. Only in the last decade has been paid attention to the health of adults women with TS. Mortality is 3 times higher than in the general population due to the risk of aortic dissection cause to structural cardiovascular anomalies and atherosclerosis related to hypertension, diabetes, dyslipidemia and obesity. They also have a high prevalence of autoimmune diseases. Until nowadays in Argentina do not exist a national registry of this disease that complies with the international follow-up recommendations for these patients. We proposed to develop the institutional register at 2014 and a multidisciplinary team was created to care and follow up girls and women with TS during 2015. It was indexed to Italian Hospital of Buenos Aires’ Rare Diseases Program since 2017. After the creation of the institutional registry and the multidisciplinary team we obtained a significant improvement in cardiology, endocrinology and otorhinolaryngology schedule visits, in lipids and hydrocarbon metabolism, liver, thyroid and celiac diseases biochemical controls and in the performance of cardiovascular MNR and bone densitometry. In conclusion, the systematized and institutional follow-up, through the registry and the creation of the Interdisciplinary Unit of Turner Syndrome, allowed us to find the flaws of the care system and to optimize the follow up of this population
Downloads
Article Details
Section
This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License.
How to Cite
References
Turner HH. A Syndrome of infantilism (disorder), congenital webbed neck, and cubitus valgus. Endocrinology. 1938; 23:566-74. DOI: https://doi.org/10.1210/endo-23-5-566
Peuchot JC, Giraudo DA, Giorgiutti E. Síndrome de Turner. Hallazgo de un cariotipo infrecuente. Arch Argent Pediatr. 2003; 101:422-3.
Hjerrild BE, Mortensen KH, Gravholt CH. Turner syndrome and clinical treatment. Br Med Bull. 2008; 86:77-93. DOI: https://doi.org/10.1093/bmb/ldn015
Bondy CA; Turner Syndrome Study Group. Care of girls and women with Turner syndrome: a guideline of the Turner Syndrome Study Group. J Clin Endocrinol Metab. 2007; 92(1):10-25. DOI: https://doi.org/10.1210/jc.2006-1374
Pinsker JE. Clinical review: Turner syndrome: updating the paradigm of clinical care. J Clin Endocrinol Metab. 2012; 97(6):E994-1003. DOI: https://doi.org/10.1210/jc.2012-1245
Gravholt CH, Andersen NH, Conway GS, et al.; International Turner Syndrome Consensus Group. Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting. Eur J Endocrinol. 2017; 177(3):G1-G70. DOI: https://doi.org/10.1530/EJE-17-0430
Freriks K, Timmermans J, Beerendonk CC, et al. Standardized multidisciplinary evaluation yields significant previously undiagnosed morbidity in adult women with Turner syndrome. J Clin Endocrinol Metab. 2011; 96(9):E1517-26. DOI: https://doi.org/10.1210/jc.2011-0346
Conway GS, Band M, Doyle J, et al. How do you monitor the patient with Turner’s syndrome in adulthood? Clin Endocrinol (Oxf). 2010; 73(6):696-9. DOI: https://doi.org/10.1111/j.1365-2265.2010.03861.x
Roulot D. Liver involvement in Turner syndrome. Liver Int. 2013; 33(1):24-30. DOI: https://doi.org/10.1111/liv.12007
Trolle C, Mortensen KH, Hjerrild BE, et al. Clinical care of adult Turner syndrome--new aspects. Pediatr Endocrinol Rev. 2012; 9 (Suppl 2):739-49.
Hagman A, Loft A, Wennerholm UB, et al. Obstetric and neonatal outcome after oocyte donation in 106 women with Turner syndrome: a Nordic cohort study. Hum Reprod. 2013; 28(6):1598-609. DOI: https://doi.org/10.1093/humrep/det082
Bondy C, Bakalov VK, Lange ED, et al. Deficient medical care for adults with Turner syndrome. Ann Intern Med. 2006; 145:866-7. DOI: https://doi.org/10.7326/0003-4819-145-11-200612050-00020
Devernay M, Ecosse E, Coste J, et al. Determinants of Medical care for young Women with Turner Syndrome: J Clin Endocrinol Metab. 2009; 94:3408-13. DOI: https://doi.org/10.1210/jc.2009-0495
Verlinde F, Massa G, Lagrou K, et al.; Belgian Study Group of Paediatric Endocrinology. Health and psychosocial status of patients with turner syndrome after transition to adulthood: the Belgian experience. Horm Res. 2004; 62(4):161-7. DOI: https://doi.org/10.1159/000080099