Genetic Investigation of 261 Cases of Turner Syndrome Patients Referred to the Genetic Clinic
Abstract
Background: Turner syndrome (TS), also known as 45,X, is a genetic disorder caused by the partial or complete lack of an X chromosome. TS can cause a variety of medical and developmental conditions. We aimed to investigate TS mosaicism and variants pattern and research the presence of a correlation between the different variant’s factors and TS occurrence.
Methods: From 1984-2018, 100,234 patients referred to the Farhud Genetic Clinic, Tehran, Iran, for karyotyping were studied. TS was determined by the chromosomal assay, and the patients’ karyotype was obtained from amniotic fluid and blood samples. Different variants of the TS diagnosed patients were investigated, including maternal and paternal age at pregnancy, parental consanguinity, and the presence/absence of a family history of the disease.
Results: Overall, 261/100,234 (0.26%) were diagnosed with TS. These, 150 cases were identified to have the classical 45,X karyotype and 111 cases were identified to have either TS mosaicism or other less common variations of TS karyotyping. Higher parental age at pregnancy and TS data suggested that the occurrence of TS is significantly higher.
Conclusion: Data suggest parental age at pregnancy is an important factor for TS occurrence. Hence, prenatal screening in these groups of parents recommended. This study also implicates early medical diagnostic testing before the onset of puberty or as soon as symptoms arise is essential for early treatment.
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2. Mauger C, Lancelot C, Roy A, et al (2018). Executive functions in children and adolescents with Turner syndrome: a systematic review and meta-analysis. Neuropsychol Rev, 28(2):188-215.
3. Xue D, Cao DH, Mu K, et al (2018). Mosaic male fetus of Turner syndrome with partial chromosome Y: A case report. J Obstet Gynaecol Res, 44(6):1158-1162.
4. Chicago TUo. Turner Syndrome [Available from: https://pedclerk.bsd.uchicago.edu/page/turner-syndrome
5. Wu H-H, Li H (2019). Karyotype classification, clinical manifestations and outcome in 124 Turner syndrome patients in China. Ann Endocrinol (Paris), 80(1):10-15.
6. Zelinska N, Shevchenko I, Globa E (2019). Nationwide study of Turner syndrome in children of Ukraine: analyses of the prevalence, genetic variants and phenotypic features. J Clin Res Pediatr Endocrinol, 10(3):256-263.
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8. Jones KL, Jones MC, Del Campo M (2013). Smith's Recognizable Patterns of Human Malformation E-Book. ed. Elsevier Health Sciences.
9. Papp C, Beke A, Mezei G, et al (2006). Prenatal diagnosis of Turner syndrome: report on 69 cases. J Ultrasound Med, 25(6):711-7, quiz 718-20.
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12. Stochholm K, Juul S, Juel K, et al (2006). Prevalence, incidence, diagnostic delay, and mortality in Turner syndrome. J Clin Endocrinol Metab, 91(10):3897-3902.
13. Lebenthal Y, Levy S, Sofrin-Drucker E, et al (2018). The natural history of metabolic comorbidities in Turner syndrome from childhood to early adulthood: comparison between 45, X monosomy and other karyotypes. Front Endocrinol (Lausanne), 9:27.
14. Abulhasan S, Tayel S, Al-Awadi S (1999). Mosaic Turner syndrome: cytogenetics versus FISH. Ann Hum Genet, 63(Pt 3):199-206.
15. Jouyan N, Dehaghani ED, Senemar S, et al (2012). Sex chromosome aneuploidy in cytogenetic findings of referral patients from south of Iran. Iran J Reprod Med, 10(2):141-8.
16. Nielsen J, Wohlert M (1991). Chromosome abnormalities found among 34910 newborn children: results from a 13-year incidence study in Århus, Denmark. Hum Genet, 87(1):81-3.
17. Held K, Kerber S, Kaminsky E, et al (1992). Mosaicism in 45, X Turner syndrome: does survival in early pregnancy depend on the presence of two sex chromosomes? Hum Genet, 88(3):288-94.
18. Duarte A, Cunha E, Roth J, et al (2004). Cytogenetics of genetic counseling patients in Pelotas, Rio Grande do Sul, Brazil. Genet Mol Res, 3(3):303-8.
19. Wiktor A, Van Dyke DL (2004). FISH analysis helps identify low-level mosaicism in Ullrich-Turner syndrome patients. Genet Med, 6(3):132-5.
20. Wiktor AE, Van Dyke DL (2005). Detection of low level sex chromosome mosaicism in Ullrich–Turner syndrome patients. Am J Med Genet A, 138A(3):259-61.
21. Tan K, Yeo G (2009). Pattern of Turner syndrome in Singapore (1999-2004). Singapore Med J, 50(6):587-90.
22. Vakili R (2003). Delayed Diagnosis of Turner Syndrome: the Problem in the Treatment of Short Stature. Journal of Kerman University of Medical Sciences: 9th series, 4: 203 to 208.
23. Naderpour N (2004). Cytogenetic Study of 243 TS Patients. Genetics in the Third Millennium, 2-1:278 to 282.
24. Moradi S, Davoudzadeh, F (2005). Evaluation of thyroid disorders in patients with TS referred to institute of endocrinology and metabolism. Iran University of Medical Sciences: 12th Series, 47:129 to 134.
25. Okhvat S, Hashemipour M, Majlesi A et al (2006). Hearing problems in Turner Syndrome. Iran University of Medical Sciences: 12th Series.
26. El‐Mansoury M, Barrenäs ML, Bryman I, et al (2007). Chromosomal mosaicism mitigates stigmata and cardiovascular risk factors in Turner syndrome. Clin Endocrinol (Oxf), 66(5):744-51.
27. Mortensen KH, Cleemann L, Hjerrild B, et al (2009). Increased prevalence of autoimmunity in Turner syndrome–influence of age. Clin Exp Immunol, 156(2):205-10.
28. Carvalho AB, Guerra Júnior G, Baptista MTM, et al (2010). Cardiovascular and renal anomalies in Turner syndrome. Rev Assoc Med Bras (1992), 56(6):655-9.
29. Alves M, Bastos M, Santos TA, et al (2013). [Gonadal function in Turner syndrome]. Acta Med Port, 26(6):655-63.
30. Castronovo C, Rossetti R, Rusconi D, et al (2014). Gene dosage as a relevant mechanism contributing to the determination of ovarian function in Turner syndrome. Hum Reprod, 29(2):368-79.
31. Hoxha P, Babameto-Laku A, et al (2015). Turner syndrome in Albania and the efficacy of its treatment with growth hormone. J Pediatr Endocrinol Metab, 28:1227-1234.
32. Bonnard Å, Hederstierna C, Bark R, et al (2017). Audiometric features in young adults with Turner syndrome. Int J Audiol, 56(9):650-656.
33. Salek M, Okhovat S, Sadeghi M, et al (2007). Health problems in Turner syndrome. J Res Med Sci, 12(2): 90-95.
34. Azimi C, Khaleghian M, Farzanfar F (2013). A retrospective chromosome studies among Iranian infertile women: Report of 21 years. Iran J Reprod Med, 11(4):315-24.
35. Nazarabadi MH, Seyyedi S, Aboutorabi R (2015). Effects of karyotype variations on phenotype of patients with Turner syndrome. Iran J Med Sci, 30:182-185.
36. Ibarra-Gasparini D, Altieri P, Scarano E, et al (2018). New insights on diabetes in Turner syndrome: results from an observational study in adulthood. Endocrine, 59(3):651-660.
37. Kammoun I, Chaabouni M, Trabelsi M, et al (2008) Analyse génétique du syndrome de Turner: étude tunisienne de 89 cas Genetic analysis of Turner syndrome: 89 cases in Tunisia. Annales d’Endocrinologie, 440-445.
38. Saadat M, Ansari-Lari M, Farhud D (2004). Short report consanguineous marriage in Iran. Ann Hum Biol, 31:263-269.
39. Álvarez-Nava F, Soto M, Sánchez MA, et al (2003). Molecular analysis in Turner syndrome. J Pediatr, 142(3):336-40.
40. Noordman I, Duijnhouwer A, Kapusta L, et al (2018). Phenotype in girls and women with Turner syndrome: Association between dysmorphic features, karyotype and cardio-aortic malformations. Eur J Med Genet, 61(6):301-306.
2. Mauger C, Lancelot C, Roy A, et al (2018). Executive functions in children and adolescents with Turner syndrome: a systematic review and meta-analysis. Neuropsychol Rev, 28(2):188-215.
3. Xue D, Cao DH, Mu K, et al (2018). Mosaic male fetus of Turner syndrome with partial chromosome Y: A case report. J Obstet Gynaecol Res, 44(6):1158-1162.
4. Chicago TUo. Turner Syndrome [Available from: https://pedclerk.bsd.uchicago.edu/page/turner-syndrome
5. Wu H-H, Li H (2019). Karyotype classification, clinical manifestations and outcome in 124 Turner syndrome patients in China. Ann Endocrinol (Paris), 80(1):10-15.
6. Zelinska N, Shevchenko I, Globa E (2019). Nationwide study of Turner syndrome in children of Ukraine: analyses of the prevalence, genetic variants and phenotypic features. J Clin Res Pediatr Endocrinol, 10(3):256-263.
7. Reference GH. Turner syndrome [Available from: https://ghr.nlm.nih.gov/condition/turner-syndrome
8. Jones KL, Jones MC, Del Campo M (2013). Smith's Recognizable Patterns of Human Malformation E-Book. ed. Elsevier Health Sciences.
9. Papp C, Beke A, Mezei G, et al (2006). Prenatal diagnosis of Turner syndrome: report on 69 cases. J Ultrasound Med, 25(6):711-7, quiz 718-20.
10. labtestsonline. cytogenetics [Available from: https://www.labtestsonline.org.au/inside-the-lab/genetic-testing/cytogenetics
11. Ibarra-Ramírez M, Martínez-de-Villarreal LE (2016). Clinical and genetic aspects of Turner's syndrome. Medicina Universitaria, 18:42-48.
12. Stochholm K, Juul S, Juel K, et al (2006). Prevalence, incidence, diagnostic delay, and mortality in Turner syndrome. J Clin Endocrinol Metab, 91(10):3897-3902.
13. Lebenthal Y, Levy S, Sofrin-Drucker E, et al (2018). The natural history of metabolic comorbidities in Turner syndrome from childhood to early adulthood: comparison between 45, X monosomy and other karyotypes. Front Endocrinol (Lausanne), 9:27.
14. Abulhasan S, Tayel S, Al-Awadi S (1999). Mosaic Turner syndrome: cytogenetics versus FISH. Ann Hum Genet, 63(Pt 3):199-206.
15. Jouyan N, Dehaghani ED, Senemar S, et al (2012). Sex chromosome aneuploidy in cytogenetic findings of referral patients from south of Iran. Iran J Reprod Med, 10(2):141-8.
16. Nielsen J, Wohlert M (1991). Chromosome abnormalities found among 34910 newborn children: results from a 13-year incidence study in Århus, Denmark. Hum Genet, 87(1):81-3.
17. Held K, Kerber S, Kaminsky E, et al (1992). Mosaicism in 45, X Turner syndrome: does survival in early pregnancy depend on the presence of two sex chromosomes? Hum Genet, 88(3):288-94.
18. Duarte A, Cunha E, Roth J, et al (2004). Cytogenetics of genetic counseling patients in Pelotas, Rio Grande do Sul, Brazil. Genet Mol Res, 3(3):303-8.
19. Wiktor A, Van Dyke DL (2004). FISH analysis helps identify low-level mosaicism in Ullrich-Turner syndrome patients. Genet Med, 6(3):132-5.
20. Wiktor AE, Van Dyke DL (2005). Detection of low level sex chromosome mosaicism in Ullrich–Turner syndrome patients. Am J Med Genet A, 138A(3):259-61.
21. Tan K, Yeo G (2009). Pattern of Turner syndrome in Singapore (1999-2004). Singapore Med J, 50(6):587-90.
22. Vakili R (2003). Delayed Diagnosis of Turner Syndrome: the Problem in the Treatment of Short Stature. Journal of Kerman University of Medical Sciences: 9th series, 4: 203 to 208.
23. Naderpour N (2004). Cytogenetic Study of 243 TS Patients. Genetics in the Third Millennium, 2-1:278 to 282.
24. Moradi S, Davoudzadeh, F (2005). Evaluation of thyroid disorders in patients with TS referred to institute of endocrinology and metabolism. Iran University of Medical Sciences: 12th Series, 47:129 to 134.
25. Okhvat S, Hashemipour M, Majlesi A et al (2006). Hearing problems in Turner Syndrome. Iran University of Medical Sciences: 12th Series.
26. El‐Mansoury M, Barrenäs ML, Bryman I, et al (2007). Chromosomal mosaicism mitigates stigmata and cardiovascular risk factors in Turner syndrome. Clin Endocrinol (Oxf), 66(5):744-51.
27. Mortensen KH, Cleemann L, Hjerrild B, et al (2009). Increased prevalence of autoimmunity in Turner syndrome–influence of age. Clin Exp Immunol, 156(2):205-10.
28. Carvalho AB, Guerra Júnior G, Baptista MTM, et al (2010). Cardiovascular and renal anomalies in Turner syndrome. Rev Assoc Med Bras (1992), 56(6):655-9.
29. Alves M, Bastos M, Santos TA, et al (2013). [Gonadal function in Turner syndrome]. Acta Med Port, 26(6):655-63.
30. Castronovo C, Rossetti R, Rusconi D, et al (2014). Gene dosage as a relevant mechanism contributing to the determination of ovarian function in Turner syndrome. Hum Reprod, 29(2):368-79.
31. Hoxha P, Babameto-Laku A, et al (2015). Turner syndrome in Albania and the efficacy of its treatment with growth hormone. J Pediatr Endocrinol Metab, 28:1227-1234.
32. Bonnard Å, Hederstierna C, Bark R, et al (2017). Audiometric features in young adults with Turner syndrome. Int J Audiol, 56(9):650-656.
33. Salek M, Okhovat S, Sadeghi M, et al (2007). Health problems in Turner syndrome. J Res Med Sci, 12(2): 90-95.
34. Azimi C, Khaleghian M, Farzanfar F (2013). A retrospective chromosome studies among Iranian infertile women: Report of 21 years. Iran J Reprod Med, 11(4):315-24.
35. Nazarabadi MH, Seyyedi S, Aboutorabi R (2015). Effects of karyotype variations on phenotype of patients with Turner syndrome. Iran J Med Sci, 30:182-185.
36. Ibarra-Gasparini D, Altieri P, Scarano E, et al (2018). New insights on diabetes in Turner syndrome: results from an observational study in adulthood. Endocrine, 59(3):651-660.
37. Kammoun I, Chaabouni M, Trabelsi M, et al (2008) Analyse génétique du syndrome de Turner: étude tunisienne de 89 cas Genetic analysis of Turner syndrome: 89 cases in Tunisia. Annales d’Endocrinologie, 440-445.
38. Saadat M, Ansari-Lari M, Farhud D (2004). Short report consanguineous marriage in Iran. Ann Hum Biol, 31:263-269.
39. Álvarez-Nava F, Soto M, Sánchez MA, et al (2003). Molecular analysis in Turner syndrome. J Pediatr, 142(3):336-40.
40. Noordman I, Duijnhouwer A, Kapusta L, et al (2018). Phenotype in girls and women with Turner syndrome: Association between dysmorphic features, karyotype and cardio-aortic malformations. Eur J Med Genet, 61(6):301-306.
| Files | ||
| Issue | Vol 50 No 10 (2021) | |
| Section | Original Article(s) | |
| DOI | https://doi.org/10.18502/ijph.v50i10.7507 | |
| Keywords | ||
| Turner syndrome Chromosomal disorders X chromosome Primary amenorrhea | ||
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How to Cite
1.
Farhud D, Asgarian R, Seifalian A, Mostafaeinejad P, Eslami M. Genetic Investigation of 261 Cases of Turner Syndrome Patients Referred to the Genetic Clinic. Iran J Public Health. 2021;50(10):2065-2075.
