Chromosomal Patterns, Demographics, Clinical Features, and Karyotype-Phenotype Correlation in Patients with Turner Syndrome

Document Type: Original article


1 Department of Pediatrics, Hamadan University of Medical Sciences, Hamadan, Iran

2 Department of Physiology, Genetics Tabriz Branch, Islamic Azad University, Tabriz branch, Tabriz, Iran

3 Clinical Research Center of Besat Hospital, Hamadan University of Medical Sciences, Hamadan, Iran


Background: Turner Syndrome (TS) is caused by the complete or partial absence/abnormality of the second X chromosome in some or all cells.
The purpose of this study was to assess the correlation between clinical presentation and karyotype variations of X chromosome in TS.
Methods: In a retrospective case-series using medical records (2001-17) for our pediatric-endocrinology TS patients, additional data were collected using a questionnaire and detailed physical examination, including demographics, initial presentation, clinical characteristics at diagnosis, height, puberty stage, cardiovascular and renal malformations, uterus and ovary status, and hormonal profile. Three patient-groups of monosomy X (45,X) cases, 45,X/46,XX or 45,X/46,XY mosaicism cases, and cases with other aberrations of X chromosome were compared in this study.
Results: In 57 TS patients (Age range 6 months to 25 years (Mean 11.85±5.1 yrs.)), 3.5% were diagnosed in infancy because of lymphedema and congenital heart disease. Short stature was the initial presentation in 78.9%. On presentation, 94.7% were short. Other referrals included cases with primary amenorrhea (12%), delayed puberty (5.3%), leg edema (1.8%) and congenital heart disease (1.8%). Mean height standard deviation score was 3.7±1.8 SD below mean for age and sex. Overall, 50.9% of cases had all clinical features consistent with TS and 21.1% had no symptoms of TS other than short stature. Of 39 patients in pubertal age, 31.6% had degrees of breast maturity. Most of them had X structural abnormalities (40.3%). However, 33.3% had classic TS. Still, 5.3% had Y-chromosome material. Among three karyotype groups, clinical symptoms and phenotypes were not significantly different.
Conclusion: The study found no correlation between the clinical presentation and karyotype variations of TS.


1. Davenport ML. Approach to the patient with Turner syndrome. J Clin Endocrinol Metab 2010;95(4):1487-95.
2. Darendeliler F, Yeşilkaya E1, Bereket A, Baş F, Bundak R, Sarı E, et al. Growth curves for Turkish girls with Turner Syndrome: Results of the Turkish Turner Syndrome Study Group. J Clin Res Pediatr Endocrinol 2015;7(3):183-91.
3. Razavi Z, Momtaz HE. Balanced reciprocal translocation t(X;1) in a girl with tall stature and primary amenorrhea. Iran J Med Sci 2017;42(2):210-14.
4. Nakamura T, Tsuburai T, Tokinaga A, Nakajima I, Kitayama R, Imai Y, et al. Efficacy of estrogen replacement therapy (ERT) on uterine growth and acquisition of bone mass in patients with Turner syndrome. Endocr J 2015;62(11):965-70.
5. Oliveira CS, Alves C. 1 The role of the SHOX gene in the pathophysiology of Turner syndrome. Endocrinol Nutr 2011;58:433-42.
6. Gonzalez L, Witchel SF. The patient with Turner syndrome: puberty and medical management concerns. Fertil Steril 2012;98(4):780-6.
7. 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(10):3897-902. 
8. Moka R, Sreelakshmi K, Gopinath PM, Satyamoorthy K. Cytogenetic evaluation of patients with clinical spectrum of Turner syndrome. J Hum Reprod Sci 2013;6(2):129-32.
9. Bharath R, Unnikrishnan AG, Thampy MV, Anilkumar A, Nisha B, Praveen VP, et al. Turner Syndrome and its Variants R. Indian J Pediatr 2010;77(2):193-5.
10. Poprawski K, Michalski M, Ławniczak M, Łacka K. Cardiovascular abnormalities in patients with Turner syndrome according to karyotype: own experience and literature review. Pol Arch Med Wewn 2009;119(7-8):453-60.
11. Kosho T, Muroya K, Nagai T, Fujimoto M, Yokoya S, Sakamoto H, et al. Skeletal features and growth patterns in 14 patients with haploinsufficiency of SHOX: implications for the development of Turner syndrome. J Clin Endocrinol Metab 1999;84(12):4613-21.
12. Carvalho AB, Lemos-Marini SHV, Guerra-Junior G, Maciel-Guerra AT. Clinical and cytogenetic features of 516 patients with suspected Turner syndrome - a single-center experience. J Pediatr Endocrinol Metab 2018;31(2):167-73.
13. Saikia UK, Sarma D, Yadav Y. Delayed presentation of Turner Syndrome: Challenge to optimal management. J Hum Reprod Sci 2017;10(4):297-301.
14. Reddy Danda VS, Sreedevi P, Arun G, Rao PS. Growth hormone treatment in Turner’s syndrome: A real world experience. Indian J Endocrinol Metab 2017;21(3):378-381.
15. Zheng J1, Liu Z, Xia P, Lai Y, Wei Y, Liu Y, et al. Clinical manifestation and cytogenetic analysis of 607 patients with Turner syndrome. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2017;34(1):61-4.
16. Elleuch M, Mnif Feki M, Kammoun M, Charfi N, Rekik N, Bouraoui A. Descriptive analyses of Turner syndrome: 49 cases in Tunisia. Ann Endocrinol (Paris) 2010;71(2):111-6.
17. Alves M, Bastos M, Almeida Santos T, Carrilho F. Gonadal function in Turner syndrome. Acta Med Port 2013;26(6):655-63.
18. Aso K, Koto S, Higuchi A, Ariyasu D, Izawa M, Miyamoto Igaki J, et al. Serum FSH level below 10 mIU/mL at twelve years old is an index of spontaneous and cyclical menstruation in Turner syndrome. Endocr J 2010;57(10):909-13.
19. 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. 
20. Saenger P, Wikland KA, Conway GS, Davenport M, Gravholt CH, Hintz R, et al. Recommendations for the diagnosis and management of Turner syndrome. J Clin Endocrinol Metab 2001;86:3061-9.
21. Sybert VP, McCauley E. Turner’s syndrome. N Engl J Med 2004;351:1227-38.
22. Castronovo C, Rossetti R, Rusconi D, Recalcati MP, Cacciatore C, Beccaria E, et al. Gene dosage as a relevant mechanism contributing to the determination of ovarian function in Turner syndrome. Hum Reprod 2014;29(2):368-79.
23. Mohamed SOO, Elkhidir IHE, Abuzied AIH, Noureddin AAMH, Ibrahim GAA, Mahmoud AAA. Prevalence of autoimmune thyroid diseases among the Turner Syndrome patients: meta-analysis of cross sectional studies. BMC Res Notes 2018;11(1):842.
24. Kammoun I, Chaabouni M, Trabelsi M, Ouertani I, Kraoua L, Chelly I, et al. Genetic analysis of Turner syndrome: 89 cases in Tunisia. Ann Endocrinol (Paris) 2008;69(5) 440-5.
25. Wu HH, Li H. Karyotype classification, clinical manifestations and outcome in 124 Turner syndrome patients in China. Ann Endocrinol (Paris) 2019;80(1):10-15.
26. 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.
27. Liang Y, Cheng J, Cai YN, Wei XP. [Karyotypes and pelvic ultrasonography in children with Turner syndrome]. Zhongguo Dang Dai Er Ke Za Zhi 2008;10(2):158-60. Chinese.
28. Rojek A, Kwasiuk K, Obara-Moszyńska M, Kolesińska Z, Niedziela M. [Y chromosome in Turner syndrome]. Pediatr Endocrinol Diabetes Metab 2017;23(1):37-41.
29. Oliveira RM, Verreschi IT, Lipay MV, Eça LP, Guedes AD, Bianco B. Y chromosome in Turner syndrome: review of the literature. Sao Paulo Med J 2009;127(6):373-8.