Journal of Isfahan Medical School

Journal of Isfahan Medical School

The Frequency of Anatomical Renal, Thyroid, Hepatic, and Cardiac Abnormalities in Patients with Turner Syndrome

Document Type : Original Article (s)

Authors
Maryam Riahinezhad 1
Mahin Hashemipour 2
Fahimeh Jaafari 3
1 Assistant Professor, Department of Imaging and Radiology, School of Medicine, Isfahan University of Medical Sciences; Isfahan; Iran
2 Professor, Metabolic Liver Disease Research Center, Isfahan University of Medical Sciences; Isfahan, Iran
3 Resident, Department of Imaging and Radiology, School of Medicine, Isfahan University of Medical Sciences; Isfahan; Iran
10.22122/jims.v39i622.13872
Abstract
Background: Turner syndrome is the most common chromosomal X-linked disorder worldwide. This syndrome can be presented with diverse genotypes, and may be accompanied by various anatomical abnormalities. This study aimed to make a view to patients with Turner syndrome thorough ultrasound and echocardiographic evaluations.Methods: The current study was conducted on 75 patients with Turner syndrome undergone karyotyping. Ultrasound study was performed to assess renal, hepatic, and thyroid anomalies. Echocardiography was done to evaluate cardiac anomalies.Findings: The patients with Turner syndrome had the mean age of 15.29 ± 5.01 years, among which, 55 (73.3%) were 45X, 14 (18.6%) 45X/46XX, and 6 (8.0%) had structural X chromosome abnormality. Generally, 20 patients (26.6%) had anatomical urogenitory pathology, including horse-shoe kidney in 9 (12.0%), duplicated urinary collected syndrome in 8 (10.7%), and renal malrotation in 7 (9.3%) patients. Abnormal thyroid echo was found in 19 (25.3%), thyroid nodule in 21 (28.0%), and thyroid pseudonodule in 15 (20%) patients. 14 patients (18.6%) had hepatosteatitis. Echocardiographic studies revealed structural anomalies in 42 patients (56%) among which aortic bicuspid valve in 17 (22.6%) and coarectation of aorta in 10 patients (13.3%) were the most common ones, respectively.Conclusion: A remarkable population of patients with Turner syndrome suffer from anatomical renal, thyroid, hepatic, and cardiac abnormalities.
Keywords
Turner syndrome
Genotype
Congenital Heart Defects
Kidney
Thyroid
Congenital Abnormalities
  1. Gravholt CH, Andersen NH, Conway GS, Dekkers OM, Geffner ME, Klein KO, et al. 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.
  2. Rogol AD. Human sex chromosome aneuploidies: The hypothalamic-pituitary-gonadal axis. Am J Med Genet C Semin Med Genet 2020; 184(2): 313-9.
  3. Donaldson MD, Gault EJ, Tan KW, Dunger DB. Optimising management in Turner syndrome: from infancy to adult transfer. Arch Dis Child 2006; 91(6): 513-20.
  4. Al Alwan I, Khadora M, Amir I, Nasrat G, Omair A, Brown L, et al. Turner syndrome genotype and phenotype and their effect on presenting features and timing of diagnosis. Int J Health Sci (Qassim) 2014; 8(2): 195-202.
  5. Granger A, Zurada A, Zurada-Zielinska A, Gielecki J, Loukas M. Anatomy of turner syndrome. Clin Anat 2016; 29(5): 638-42.
  6. Rumack CM, Levine D. Diagnostic Ultrasound. Philadelphia, PA: Elsevier/Mosby; 2017.
  7. Goldberg BB. Diagnostic ultrasound. Boca Raton, FL: CRC Press; 2020.
  8. Lopez L, Colan S, Stylianou M, Granger S, Trachtenberg F, Frommelt P, et al. Relationship of Echocardiographic Z Scores Adjusted for Body Surface Area to Age, Sex, Race, and Ethnicity: The Pediatric Heart Network Normal Echocardiogram Database. Circ Cardiovasc Imaging 2017; 10(11): e006979.
  9. Yesilkaya E, Bereket A, Darendeliler F, Bas F, Poyrazoglu S, Kucukemre AB, et al. Turner syndrome and associated problems in Turkish children: A multicenter study. J Clin Res Pediatr Endocrinol 2015; 7(1): 27-36.
  10. Prakash SK, Crenshaw ML, Backeljauw PF, Silberbach M, Scurlock C, Culin DD, et al. 45,X mosaicism in a population-based biobank: implications for Turner syndrome. Genet Med 2019; 21(8): 1882-3.
  11. Kerstin A, Ranke MB. Turner syndrome in a life span perspective: Research and clinical aspects. Proceedings of the 4th International Symposium on Turner Syndrome; 1995 May 18-21; Gothenburg, Sweden.
  12. Zelinska N, Shevchenko I, Globa E. Nationwide Study of Turner Syndrome in Ukrainian Children: Prevalence, genetic variants and phenotypic features. J Clin Res Pediatr Endocrinol 2018; 10(3): 256-63.
  13. Yu DU, Ku JK, Chung WY. Renal problems in early adult patients with turner syndrome. Child Kidney Dis 2015; 19(2): 154-8.
  14. Elsheikh M, Dunger DB, Conway GS, Wass JA. Turner's syndrome in adulthood. Endocr Rev 2002; 23(1): 120-40.
  15. Trovo de Marqui AB. Turner syndrome and genetic polymorphism: A systematic review. Rev Paul Pediatr 2015; 33(3): 364-71. [In Portuguese].
  16. Ferguson-Smith MA. Karyotype-phenotype correlations in gonadal dysgenesis and their bearing on the pathogenesis of malformations. J Med Genet 1965; 2(2): 142-55.
  17. Chang P, Tsau YK, Tsai WY, Tsai WS, Hou JW, Hsiao PH, et al. Renal malformations in children with Turner's syndrome. J Formos Med Assoc 2000; 99(10): 796-8.
  18. Hamza RT, Shalaby MH, Hamed LS, Abdulla DBA, Elfekky SM, Sultan OM. Renal anomalies in patients with turner syndrome: Is scintigraphy superior to ultrasound? Am J Med Genet A 2016; 170A(2): 355-62.
  19. Ogata T, Matsuo N. Turner syndrome and female sex chromosome aberrations: Deduction of the principal factors involved in the development of clinical features. Hum Genet 1995; 95(6): 607-29.
  20. Grossi A, Crino A, Luciano R, Lombardo A, Cappa M, Fierabracci A. Endocrine autoimmunity in Turner syndrome. Ital J Pediatr 2013; 39: 79.
  21. Aversa T, Gallizzi R, Salzano G, Zirilli G, De Luca F, Valenzise M. Atypical phenotypic aspects of autoimmune thyroid disorders in young patients with Turner syndrome. Ital J Pediatr 2018; 44(1): 12.
  22. Elsheikh M, Wass JA, Conway GS. Autoimmune thyroid syndrome in women with Turner's syndrome--the association with karyotype. Clin Endocrinol (Oxf) 2001; 55(2): 223-6.
  23. Premawardhana LD, Parkes AB, Ammari F, John R, Darke C, Adams H, et al. Postpartum thyroiditis and long-term thyroid status: prognostic influence of thyroid peroxidase antibodies and ultrasound echogenicity. J Clin Endocrinol Metab 2000; 85(1): 71-5.
  24. Radetti G, Mazzanti L, Paganini C, Bernasconi S, Russo G, Rigon F, et al. Frequency, clinical and laboratory features of thyroiditis in girls with Turner's syndrome. The Italian Study Group for Turner's Syndrome. Acta Paediatr 1995; 84(8): 909-12.
  25. Chiovato L, Larizza D, Bendinelli G, Tonacchera M, Marino M, Mammoli C, et al. Autoimmune hypothyroidism and hyperthyroidism in patients with Turner's syndrome. Eur J Endocrinol 1996; 134(5): 568-75.
  26. Calcaterra V, Klersy C, Muratori T, Caramagna C, Brizzi V, Albertini R, et al. Thyroid ultrasound in patients with Turner syndrome: influence of clinical and auxological parameters. J Endocrinol Invest 2011; 34(4): 260-4.
  27. Valenzise M, Aversa T, Corrias A, Mazzanti L, Cappa M, Ubertini G, et al. Epidemiology, presentation and long-term evolution of Graves' disease in children, adolescents and young adults with Turner syndrome. Horm Res Paediatr 2014; 81(4): 245-50.
  28. Hamza RT, Raof NA, Abdallah KO. Prevalence of multiple forms of autoimmunity in Egyptian patients with Turner syndrome: relation to karyotype. J Pediatr Endocrinol Metab 2013; 26(5-6): 545-50.
  29. Cogni G, Chiovato L. An overview of the pathogenesis of thyroid autoimmunity. Hormones
  30. (Athens) 2013; 12(1): 19-29.
  31. Rago T, Chiovato L, Grasso L, Pinchera A, Vitti P. Thyroid ultrasonography as a tool for detecting thyroid autoimmune diseases and predicting thyroid dsfunction in apparently healthy subjects. J Endocrinol Invest 2001; 24(10): 763-9.
  32. Vitti P, Rago T. Thyroid ultrasound as a predicator of thyroid disease. J Endocrinol Invest 2003; 26(7): 686-9.
  33. Elsheikh M, Hodgson HJ, Wass JA, Conway GS. Hormone replacement therapy may improve hepatic function in women with Turner's syndrome. Clin Endocrinol (Oxf) 2001; 55(2): 227-31.
  34. Wojcik M, Ruszala A, Janus D, Starzyk JB. Liver biochemical abnormalities in adolescent patients with Turner syndrome. J Clin Res Pediatr Endocrinol 2019; 11(4): 395-9.
  35. Roulot D. Liver involvement in Turner syndrome. Liver Int 2013; 33(1): 24-30.
  36. Machlab S, Miquel M, Volta T, Escoda MR, Vergara M. Turner syndrome as a cause of liver cirrhosis. Gastroenterol Hepatol 2018; 41(5): 308-9.
  37. Bondy CA. 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.
  38. Morgan T. Turner syndrome: diagnosis and management. Am Fam Physician 2007; 76(3): 405-10.
  39. Mortensen KH, Andersen NH, Gravholt CH. Cardiovascular phenotype in Turner syndrome--integrating cardiology, genetics, and endocrinology. Endocr Rev 2012; 33(5): 677-714.
  40. Kim HK, Gottliebson W, Hor K, Backeljauw P, Gutmark-Little I, Salisbury SR, et al. Cardiovascular anomalies in Turner syndrome: spectrum, prevalence, and cardiac MRI findings in a pediatric and young adult population. AJR Am J Roentgenol 2011; 196(2): 454-60.
  41. Mortensen KH, Hjerrild BE, Andersen NH, Sorensen KE, Horlyck A, Pedersen EM, et al. Abnormalities of the major intrathoracic arteries in Turner syndrome as revealed by magnetic resonance imaging. Cardiol Young 2010; 20(2): 191-200.
  42. Mortensen KH, Gopalan D, Norgaard BL, Andersen NH, Gravholt CH. Multimodality cardiac imaging in Turner syndrome. Cardiol Young 2016; 26(5): 831-41.
  43. Sachdev V, Matura LA, Sidenko S, Ho VB, Arai AE, Rosing DR, et al. Aortic valve disease in Turner syndrome. J Am Coll Cardiol 2008; 51(19): 1904-9.
  44. Sigakis CJG, Browne LP, Bang T, Khanna A, Pruente R, Vargas D. Computed Tomography and Magnetic Resonance Imaging of Cardiovascular Anomalies Associated With Turner Syndrome. J Thorac Imaging 2019; 34(3): W23-W35.
  45. Sharma J, Friedman D, Dave-Sharma S, Harbison M. Aortic distensibility and dilation in Turner's syndrome. Cardiol Young 2009; 19(6): 568-72.
  46. Eckhauser A, South ST, Meyers L, Bleyl SB, Botto LD. Turner syndrome in girls presenting with coarctation of the aorta. J Pediatr 2015; 167(5): 1062-6.
  47. Sybert VP. Cardiovascular malformations and complications in Turner syndrome. Pediatrics 1998; 101(1): E11.
  48. Chou YY, Wang CJ, Lin CH, Chung HT, Lo FS. Association between cardiovascular anomalies and karyotypes in Turner syndrome patients in Taiwan: A local cohort study. Pediatr Neonatol 2020; 61(2): 188-94.
  49. Cramer JW, Bartz PJ, Simpson PM, Zangwill SD. The spectrum of congenital heart disease and outcomes after surgical repair among children with Turner syndrome: a single-center review. Pediatr Cardiol 2014; 35(2): 253-60.

  • Receive Date 30 January 2021
  • Accept Date 06 April 2022