Semih Bolu, Mustafa Dogan, Recep Eroz, Ilknur Arslan

The relationship between phenotypical findings anddifferent karyotypes in children with turner syndrome

Aim: Turner syndrome (TS) is the most common chromosomal disorder in girls. Several systems can be adversely affectedin association with genetic disorders. The purpose of this study was to examine the karyotype distribution in patients with TS, frequently seen clinical characteristics, and their relations with the karyotypes.Materials and Methods: Fifty-four cases ranging in age between two and 40 years and diagnosed with TS at three different centersin Turkey between May 2013 and June 2019 were evaluated retrospectively. Results: The patients’ mean age was 17.5±9.3 years. The most common chromosomal anomaly was 45,X (35.2%), followed by low-level mosaic (20.4%), isochromosome (18.5%), deletion (9.3%) and other chromosomal disorders (16.7%). The most common presentation symptom was short stature (66.6%), followed by infertility (12.9%). Cardiovascular pathology was determined in 33.3% of cases, hypothyroidism in 25.9%, ophthalmological problems in 24.1%, renal anomaly in 18.5%, hearing loss in 12.9%, and scoliosis in 9.3% and mental retardation in 16.6%. Obesity was present in 33.3% of cases.Conclusion: Turner Syndrome is a chromosomal disorder affecting several systems. Clinical manifestations in patients with TS canbe affected to varying degrees depending on the karyotype.

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1. 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.
2. Tanriverdi N, Demirhan O, Suleymanova D, et al.
Frequencies and distributions of sex chromosome
abnormalities in females with the Turner phenotype: a
long-term retrospective study in the southern region
of Turkey. Turk J Med Sci 2017;47:1447-5.
3. Gursoy S, Erçal D. Turner Syndrome and Its Variants. J
Pediatr Res 2017;4:171-5.
4. Yesilkaya E, Bereket A, Darendeliler F, et al. Turner
syndrome and associated problems in Turkish
children: a multicenter study. J Clin Res Pediatr
Endocrinol 2015;7:27-36.
5. Al Alwan I, Khadora M, Amir I, et al. Turner Syndrome
Genotype and phenotype and their effect on presenting
features and timing of Diagnosis. Int J Health Sci
(Qassim) 2014;8:195- 202.
6. Li P, Cheng F, Xiu L. Height outcome of the recombinant
human growth hormone treatment in Turner syndrome:
a meta-analysis. Endocr Connect 2018;7:573-83.
7. Trovó de Marqui AB. Turner syndrome and genetic
polymorphism: a systematic review. Rev Paul Pediatr
2015;33:364-71.
8. Abir R, Fisch B, Nahum R, et al. Turner's syndrome
and fertility: current status and possible putative
prospects. Hum Reprod Update 2001;7:603-10.
9. Elsheikh M, Dunger DB, Conway GS, et al. Turner's
syndrome in adulthood. Endocr Rev 2002;23:120-40.
10. Dawson-Falk KL, Wright AM, Bakker B, et al.
Cardiovascular evaluation in Turner syndrome: utility
of MR imaging. Australas Radiol 1992;36:204-9.
11. Bondy CA. Heart disease in Turner syndrome. Minerva
Endocrinol 2007;32:245-61.
12. Mazzanti L, Cacciari E. Congenital heart disease in
patients with Turner's syndrome. Italian Study Group
for Turner Syndrome (ISGTS). J Pediatr 1998;133:688-
92.
13. Bondy C, Bakalov VK, Cheng C, et al. Bicuspid aortic
valve and aortic coarctation are linked to deletion of
the X chromosome short arm in Turner syndrome. J
Med Genet 2013;50:662-5.
14. De Groote K, Demulier L, De Backer, et al. Arterial
hypertension in Turner syndrome: a review of the
literature and a practical approach for diagnosis and
treatment. J Hypertens 2015;33:1342-51.
15. Mortensen KH, Andersen NH, Gravholt CH.
Cardiovascular phenotype in Turner syndrome--
integrating cardiology, genetics, and endocrinology.
Endocr Rev 2012;33:677-714.
16. Nathwani NC1, Unwin R, Brook CG, et al. The influence
of renal and cardiovascular abnormalities on blood
pressure in Turner syndrome. Clin Endocrinol (Oxf)
2000;52:371-7.
17. Gravholt CH, Hansen KW, Erlandsen M, et al. Nocturnal hypertension and impaired sympathovagal tone in
Turner syndrome. J Hypertens 2006;24:353-60.
18. Bilge I, Kayserili H, Emre S, et al. Frequency of renal
malformations in Turner syndrome: analysis of 82
Turkish children. Pediatr Nephrol 2000;14:1111-4.
19. Mortensen KH, Cleemann L, Hjerrild BE, et al. Increased
prevalence of autoimmunity in Turner syndrome--
influence of age. Clin Exp Immunol. 2009;156:205-10.
20. Bois E, Nassar M, Zenaty D, et al. Otologic disorders
in Turner syndrome. Eur Ann Otorhinolaryngol Head
Neck Dis 2018;135:21-4.
21. Alves C, Oliveira CS. Hearing loss among patients
with Turner's syndrome: literature review. Braz J
Otorhinolaryngol 2014;80:257-63. 22. Dogan M, Eroz R, Bolu S, et al. Evaluation of Karyotype
Composition of Our Turner Syndrome Patients with
Their Application Complaints and Anthropometric.
Konuralp Tıp Dergisi 2018;10:248-52.
23. Wikiera B, Mulak M, Koltowska-Haggstrom M, et al. The presence of eye defects in patients with Turner
syndrome is irrespective of their karyotype. Clin
Endocrinol (Oxf) 2015;83:842-8.
24. Bolar K, Hoffman AR, Maneatis T, et al. Long-term safety
of recombinant human growth hormone in Turner
syndrome. J Clin Endocrinol Metab 2008;93:344-51.
25. Culen C, Ertl DA, Schubert K, et al. Care of girls and
women with Turner syndrome: beyond growth and
hormones. Endocr Connect 2017;6:39-51.
26. Van Dyke DL, Wiktor A, Roberson JR, et al. Mental
retardation in Turner syndrome. J Pediatr 199;118:415-
7.
27. Hanew K, Tanaka T, Horikawa R, et al. Women
with Turner syndrome are at high risk of lifestyle-
related disease -From questionnaire surveys by the
Foundation for Growth Science in Japan. Endocr J
2016;63:449-56.