Associated clinical abnormalities among patients with Turner syndrome

Key Findings & Data:This studyaimed to investigate clinical features and identify associated abnormalities in a group of patients with TS.METHODS: Retrospective data of presenting clinical features collected from the medical records of the 37 patients with TS.All patients were examined for associated clinical abnormalities.RESULTS: Mean age at diagnosis was 9.3±4.1 years.

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Conclusion & Impact:Early diagnosis can initiate effectivemanagement in patients with TS.

🔬Design:Research Article

📍Scope:Comprehensive Sample

⚙️Variables:Domain Parameters

Abstract

OBJECTIVE: The early diagnosis of Turner syndrome (TS) is often difficult because of the various clinical features. This studyaimed to investigate clinical features and identify associated abnormalities in a group of patients with TS.METHODS: Retrospective data of presenting clinical features collected from the medical records of the 37 patients with TS.All patients were examined for associated clinical abnormalities.RESULTS: Mean age at diagnosis was 9.3±4.1 years. The main reason for referral was short stature and/or delayed puberty.All of the patients had at least one dysmorphic sign. Skeletal system abnormalities (57%) were the most common associated abnormality, which was followed by gastrointestinal system problems (40%). Cardiac defects occurred in 32%. Urinarysystem abnormalities occurred in 27%. Dermatological problems were detected in 32% of the patients. The pathology ofthe hearing was found in 19%. Autoimmune thyroid disease was detected in 24% of the patients, and celiac disease wasdetected in 5.4% of the patients.CONCLUSION: Phenotypic variability often leads to a delay in the diagnosis of TS. Early diagnosis can initiate effectivemanagement in patients with TS.

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Cite This Article

GÜVEN, A., KILINÇ, S., YILDIZ, M. (2022). Associated clinical abnormalities among patients with Turner syndrome. İstanbul Kuzey Klinikleri, Cilt: 7 - Sayı: 3, 226–230. https://ajindex.com/articles/551350

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References (1)

Elsheikh M, Dunger DB, Conway GS, Wass JA. Turner’s syndrome in adulthood. Endocr Rev 2002;23:120–40. 2. Gravholt CH. Epidemiological, endocrine and metabolic features in Turner syndrome. Eur J Endocrinol 2004;151:657–87. 3. Gravholt CH, Juul S, Naeraa RW, Hansen J. Morbidity in Turner syndrome. J Clin Epidemiol 1998;51:147–58. 4. Stochholm K, Juul S, Juel K, Naeraa RW, Gravholt CH. Prevalence, incidence, diagnostic delay, and mortality in Turner syndrome. J Clin Endocrinol Metab 2006;91:3897–902. 5. Sybert VP, McCauley E. Turner’s syndrome. N Engl J Med 2004;351:1227–38. 6. Massa G, Verlinde F, De Schepper J, Thomas M, Bourguignon JP, Craen M, et al; Belgian Study Group for Paediatric Endocrinology. Trends in age at diagnosis of Turner syndrome. Arch Dis Child 2005;90:267–8. 7. Apperley L, Das U, Ramakrishnan R, Dharmaraj P, Blair J, Didi M, et al. Mode of clinical presentation and delayed diagnosis of Turner syndrome: a single Centre UK study. Int J Pediatr Endocrinol 2018;2018:4. 8. Bucerzan S, Miclea D, Popp R, Alkhzouz C, Lazea C, Pop IV, et al. Clinical and genetic characteristics in a group of 45 patients with Turner syndrome (monocentric study). Ther Clin Risk Manag 2017;13:613–22. 9. Saenger P, Wikland KA, Conway GS, Davenport M, Gravholt CH, Hintz R, et al; Fifth International Symposium on Turner Syndrome. Recommendations for the diagnosis and management of Turner syndrome. J Clin Endocrinol Metab 2001;86:3061–9. 10. 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;92:10–25. 11. Yeşilkaya E, Bereket A, Darendeliler F, Baş F, Poyrazoğlu Ş, Küçükemre Aydın B, et al. Turner syndrome and associated problems in Turkish children: a multicenter study. J Clin Res Pediatr Endocrinol 2015;7:27– 36. 12. Bondy CA. Heart disease in Turner syndrome. Minerva Endocrinol 2007;32:245–61. 13. Gøtzsche CO, Krag-Olsen B, Nielsen J, Sørensen KE, Kristensen BO. Prevalence of cardiovascular malformations and association with karyotypes in Turner’s syndrome. Arch Dis Child 1994;71:433–6. 14. Bonamico M, Pasquino AM, Mariani P, Danesi HM, Culasso F, Mazzanti L, et al; Italian Society Of Pediatric Gastroenterology Hepatology (SIGEP); Italian Study Group for Turner Syndrom (ISGTS). Prevalence and clinical picture of celiac disease in Turner syndrome. J Clin Endocrinol Metab 2002;87:5495–8. 15. Ricotti S, Petrucci L, Carenzio G, Klersy C, Calcaterra V, Larizza D