Genetic Investigation of 261 Cases of Turner Syndrome Patients Referred to the Genetic Clinic

Overview

Journal Iran J Public Health

Date 2022 Feb 28

PMID 35223574

Authors

Dariush Farhud

Rojiar Asgarian

Amelia Seifalian

Paria Mostafaeinejad

Maryam Eslami

Affiliations

Soon will be listed here.

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.

Citing Articles

Isochromosome Mosaic Turner Syndrome With Epilepsy and Developmental Abnormalities: A Case Report.

Prugue C, Tjiattas-Saleski L, Enkemann S Cureus. 2024; 15(12):e50961.

PMID: 38249224 PMC: 10800156. DOI: 10.7759/cureus.50961.

References

Stochholm K, Juul S, Juel K, Naeraa R, Gravholt C . Prevalence, incidence, diagnostic delay, and mortality in Turner syndrome. J Clin Endocrinol Metab. 2006; 91(10):3897-902. DOI: 10.1210/jc.2006-0558. View

Kammoun I, Chaabouni M, Trabelsi M, Ouertani I, Kraoua L, Chelly I . [Genetic analysis of Turner syndrome: 89 cases in Tunisia]. Ann Endocrinol (Paris). 2008; 69(5):440-5. DOI: 10.1016/j.ando.2008.01.007. View

Mortensen K, Cleemann L, Hjerrild B, Nexo E, Locht H, Jeppesen E . Increased prevalence of autoimmunity in Turner syndrome--influence of age. Clin Exp Immunol. 2009; 156(2):205-10. PMC: 2759466. DOI: 10.1111/j.1365-2249.2009.03895.x. View

Wu H, Li H . Karyotype classification, clinical manifestations and outcome in 124 Turner syndrome patients in China. Ann Endocrinol (Paris). 2018; 80(1):10-15. DOI: 10.1016/j.ando.2017.10.011. View

Papp C, Beke A, Mezei G, Szigeti Z, Ban Z, Papp Z . Prenatal diagnosis of Turner syndrome: report on 69 cases. J Ultrasound Med. 2006; 25(6):711-7. DOI: 10.7863/jum.2006.25.6.711. View

Jouyan N, Dehaghani E, Senemar S, Shojaee A, Mozdarani H . Sex chromosome aneuploidy in cytogenetic findings of referral patients from south of Iran. Iran J Reprod Med. 2014; 10(2):141-8. PMC: 4163277. View

Lebenthal Y, Levy S, Sofrin-Drucker E, Nagelberg N, Weintrob N, Shalitin S . 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). 2018; 9:27. PMC: 5811462. DOI: 10.3389/fendo.2018.00027. View

Alves M, Bastos M, Almeida Santos T, Carrilho F . [Gonadal function in Turner syndrome]. Acta Med Port. 2014; 26(6):655-63. View

Saadat M, Ansari-Lari M, Farhud D . Consanguineous marriage in Iran. Ann Hum Biol. 2004; 31(2):263-9. DOI: 10.1080/03014460310001652211. View

10.

Carvalho A, Junior G, Baptista M, de Faria A, Marini S, Guerra A . Cardiovascular and renal anomalies in Turner syndrome. Rev Assoc Med Bras (1992). 2011; 56(6):655-9. DOI: 10.1590/s0104-42302010000600012. View

11.

Alvarez-Nava F, Soto M, Sanchez M, Fernandez E, Lanes R . Molecular analysis in Turner syndrome. J Pediatr. 2003; 142(3):336-40. DOI: 10.1067/mpd.2003.95. View

12.

Tan K, Yeo G . Pattern of Turner syndrome in Singapore (1999-2004). Singapore Med J. 2009; 50(6):587-90. View

13.

Castronovo C, Rossetti R, Rusconi D, Recalcati M, Cacciatore C, Beccaria E . Gene dosage as a relevant mechanism contributing to the determination of ovarian function in Turner syndrome. Hum Reprod. 2013; 29(2):368-79. PMC: 3896225. DOI: 10.1093/humrep/det436. View

14.

Duarte A, Cunha E, Roth J, Ferreira F, Garcias G, Martino-Roth M . Cytogenetics of genetic counseling patients in Pelotas, Rio Grande do Sul, Brazil. Genet Mol Res. 2004; 3(3):303-8. View

15.

Azimi C, Khaleghian M, Farzanfar F . A retrospective chromosome studies among Iranian infertile women: Report of 21 years. Iran J Reprod Med. 2014; 11(4):315-24. PMC: 3941426. View

16.

Mauger C, Lancelot C, Roy A, Coutant R, Cantisano N, Le Gall D . Executive Functions in Children and Adolescents with Turner Syndrome: A Systematic Review and Meta-Analysis. Neuropsychol Rev. 2018; 28(2):188-215. DOI: 10.1007/s11065-018-9372-x. View

17.

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):256-263. PMC: 6083464. DOI: 10.4274/jcrpe.5119. View

18.

Xue D, Cao D, Mu K, Lv Y, Yang J . Mosaic male fetus of Turner syndrome with partial chromosome Y: A case report. J Obstet Gynaecol Res. 2018; 44(6):1158-1162. DOI: 10.1111/jog.13617. View

19.

Held K, Kerber S, Kaminsky E, Singh S, Goetz P, Seemanova E . Mosaicism in 45,X Turner syndrome: does survival in early pregnancy depend on the presence of two sex chromosomes?. Hum Genet. 1992; 88(3):288-94. DOI: 10.1007/BF00197261. View

20.

Bonnard A, Hederstierna C, Bark R, Hultcrantz M . Audiometric features in young adults with Turner syndrome. Int J Audiol. 2017; 56(9):650-656. DOI: 10.1080/14992027.2017.1314559. View