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Turner Sendromlu Olgularımızın Karyotip Kompozisyonlarının Başvuru Şikayetleri ve Antropometrik Verileri ile Birlikte Değerlendirilmesi

Year 2018, Volume: 10 Issue: 2, 248 - 252, 15.08.2018
https://doi.org/10.18521/ktd.414179

Abstract

Turner
sendromu (TS), kadınlarda ikinci X kromozomunun kısmi veya tam kaybı ya da X
kromozomunun yapısal anomalileri sonucu oluşan ve boy kısalığı, lenfödem,
kardiyak anomaliler, primer over yetmezliği ve nörokognitif problemler gibi
klinik bulgular ile karakterize bir hastalıktır. Prevalansı 1/2000-1/2500 canlı
dişi doğum olarak ortaya konmuştur. Hastaların TS tanısı almaları geniş yaş
aralıklarında olabilmektedir. TS’lu
hastalar farklı karyotip kompozisyonları göstermekte bu da hastalarda farklı
klinik manifestasyonlara neden olmaktadır.
Yaptığımız çalışmada
sitogenetik analizi sonuçlarına göre 9 hastada 45,X (%45), 1 hastada
46,X,der(X),t(X,X)(p.11.2;q22)/45,X (%5), 1 hastada 45,X/46,X,del(X)(p.11.2)
(%5), 1 hastada 45,X/47,XXX (%5), 4 hastada 45,X/46,XX (%20), 2 hastada
46,X,i(X)(q10)/45,X (%10), 1 hastada 46,X,i(X)(q10) (%5) ve 1 hastada
46,X,del(X)(p21) (%5) kromozomal kompozisyon tespit edildi.

Turner sendromlu olgularımızın karyotip kompozisyonlarını, başvuru şikayetlerini,
antropometrik verileriyle birlikte literatüre katkı amaçlı sunduk.

References

  • 1. Turner HH. A syndrome of infantilism, congenital webbed neck, and cubitus valgus. Endocrinology 1938; 23: 566–574.
  • 2. Bondy CA. Care of girls and women with Turner syndrome: a guideline of the Turner syndrome Study Group. J Clin Endocrinol Metab 2007; 92: 10–25.
  • 3. http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=881,02/04/2018
  • 4. Shankar RK, Backeljauw PF. Current best practice in the management of Turner syndrome. Ther Adv Endocrinol Metab 2018; Vol. 9(1) 33–40.
  • 5. Bronshtein M, Zimmer EZ, Blazer S. A characteristic cluster of fetal sonographic markers that are predictive of fetal Turner syndrome in early pregnancy. Am J Obstet Gynecol 2003; 188: 1016–1020.
  • 6. Gil MM, Quezada MS, Revello R, et al. Analysis of cell-free DNA in maternal blood in screening for fetal aneuploidies: updated meta-analysis. Ultrasound Obstet Gynecol 2015; 45: 249–266.
  • 7. Gravholt CH, Andersen NH, Conway GS, 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: G1–G70.
  • 8. Ackermann A, Bamba V. Current controversies in Turner syndrome: genetic testing, assisted reproduction, and cardiovascular risks. J Clin Transl Endocrin 2014; 1: 61–65
  • 9. Çoğulu Ö. Tıbbi Genetik Laboratuvar ve Klinik, Ankara: Nobel Tıp Kitabevi, 2017; 226-230.
  • 10. Yeşilkaya E, Bereket A, Darendeliler F, et all. Turner Syndrome and Associated Problems in Turkish Children: A Multicenter Study. J Clin Res Pediatr Endocrinol 2015;7(1):27-36
  • 11. Sari E, Bereket A, Yeşilkaya E, et all. Anthropometric Findings From Birth to Adulthood and Their Relation with Karyotpye Distribution in Turkish Girls with Turner Syndrome. Am J Med Genet Part 2016; 170A(4):942–948.
  • 12. Oliveira CS, Alves C. The role of the shox gene in the pathophysiology of turner syndrome. Endocrinol Nutr 2011; (58)433-442.
  • 13. Ogata T, Matsuo N, ,Nishimura G. Shox haploinsufficiency and overdosage: Impact of gonadal function status. J Med Genet 2001; 38, 1-6.
  • 14. Torun D, Kavuş H, Öztuna A, et all. Boy kısalığı nedeni ile takip edilen kız çocuklarında karyotip analizi sonuçlarımız. Gülhane Tıp Derg 2017;59: 21-23.
  • 15. Ross JL, Quigley CA, Cao D, et al. Growth hormone plus childhood low-dose estrogen in Turner’s syndrome. N Engl J Med 2011; 364: 1230–1242.
  • 16. Ballerini MG, Braslavsky D, Scaglia PA, et all. Circulating IGF-I, IGFBP-3 and the IGF-I/IGFBP-3 Molar Ratio Concentration and Height Outcome in Prepubertal Short Children on rhGH Treatment over Two Years of Therapy. Horm Res Paediatr 2017;88(5):354-363.
  • 17. Danda VS, Sreedevi P, Arun G, et all. Growth Hormone Treatment in Turner's Syndrome: A Real World Experience. Indian J Endocrinol Metab 2017;21(3):378-381.
  • 18. Iughetti L, Tornese G, Street ME, et all. Long-term safety and efficacy of Omnitrope, a somatropin biosimilar, in children requiring growth hormone treatment: Italian interim analysis of the PATRO Children study. Ital J Pediatr 2016;42(1):93.
  • 19. Dauber A, Rosenfeld RG, Hirschhorn JN. Genetic evaluation of short stature. J Clin Endocrinol Metab 2014;99:3080-3092.
  • 20. Wit JM, Clayton PE, Rogol AD, et all. Idiopathic short stature: definition, epidemiology, and diagnostic evaluation. Growth Horm IGF Res 2008;18:89-110.
  • 21. Yuce H, Eroz R, Dogan M, et all. Uluslararası Katılımlı XI. Türk-Alman Jinekoloji Kongresi Konferansı Dahilinde bildiri kitapçığındaki ‘‘Chromosomal Analaysis Results of 268 Female Patients with habitual abortus etiology who Admitted to Duzce University Research and Application Hospital between 2011 and 2015 in Western Blacksea Region’’, Antalya: 2016; P-066.
  • 22. Doğan M, Eröz R, Yüce H, Gümüs AA et all. Uluslararası Katılımlı XII. Ulusal Tıbbi Genetik Kongresi Dâhilinde ‘‘bildiri olarak sunulan’’ kongre kitapçığındaki ‘‘A Mosaic Turner Syndrome with Unbalanced Translocation’’, İzmir: 2016; P-049.
  • 23. Gümüs AA, Doğan M, Eröz R, et all. Uluslararası Katılımlı XII. Ulusal Tıbbi Genetik Kongresi Dâhilinde ‘‘bildiri olarak sunulan’’ kongre kitapçığındaki ‘‘Habitüel abortuslu bir olguda mozaik Turner Sendromu’’, İzmir: 2016; P-065.
  • 24. Rojek A, Obara M, Kolesinska Z, et all. Molecular Detection and Incidence of Y Chromosomal Material in Patients with Turner Syndrome. Sex Dev 2017; 11(5-6):254-261.
  • 25. Dogan M, Eroz R, Bolu S, et all. A Boy With Short Stature, Unusual Findings And Low Percentage Of 45,X(4%) / 46,XY(96%) Mosaicısm: A Clinical Report And Review Of The Literature. Genetic Counselling 2016; Vol. 27, No 2, pp 269-272.

Evaluation of Karyotype Composition of Our Turner Syndrome Patients with Their Application Complaints and Anthropometric Data

Year 2018, Volume: 10 Issue: 2, 248 - 252, 15.08.2018
https://doi.org/10.18521/ktd.414179

Abstract

Turner syndrome (TS) is the result of partial or complete loss
of the second X chromosome in women or structural anomalies of the X
chromosome, and is characterized by clinical manifestations such as short
stature, lymphedema, cardiac anomalies, primer over failure and neurocognitive
problems. The prevalence is 1/2000-1/2500 live born female children. Patients
with Turner syndrome can be diagnosed at a wide age of range. Patients with TS
show different karyotype compositions, which cause different clinical
manifestations in cases. According to the results of cytogenetic analysis in
our study, it was detected that 9 patients were 45, X (45%), 1 patient was
46,X,der(X),t(X,X)(p.11.2;q22)/45,X (%5), 1 patient was
45,X/46,X,del(X)(p.11.2) (%5), 1 patient was 45,X/47,XXX (%5), 4 patients were
45,X/46,XX (%20), 2 patients were 46,X,i(X)(q10)/45,X (%10), 1 patient was
46,X,i(X)(q10) (%5),1 patient was 46,X,del(X)(p21) (%5)
chromosomal composition. We have presented our patients with Turner syndrome
together with the reasons for application complaints and anthropometric datas
with karyotype compositions for contribution to the literature.

References

  • 1. Turner HH. A syndrome of infantilism, congenital webbed neck, and cubitus valgus. Endocrinology 1938; 23: 566–574.
  • 2. Bondy CA. Care of girls and women with Turner syndrome: a guideline of the Turner syndrome Study Group. J Clin Endocrinol Metab 2007; 92: 10–25.
  • 3. http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=881,02/04/2018
  • 4. Shankar RK, Backeljauw PF. Current best practice in the management of Turner syndrome. Ther Adv Endocrinol Metab 2018; Vol. 9(1) 33–40.
  • 5. Bronshtein M, Zimmer EZ, Blazer S. A characteristic cluster of fetal sonographic markers that are predictive of fetal Turner syndrome in early pregnancy. Am J Obstet Gynecol 2003; 188: 1016–1020.
  • 6. Gil MM, Quezada MS, Revello R, et al. Analysis of cell-free DNA in maternal blood in screening for fetal aneuploidies: updated meta-analysis. Ultrasound Obstet Gynecol 2015; 45: 249–266.
  • 7. Gravholt CH, Andersen NH, Conway GS, 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: G1–G70.
  • 8. Ackermann A, Bamba V. Current controversies in Turner syndrome: genetic testing, assisted reproduction, and cardiovascular risks. J Clin Transl Endocrin 2014; 1: 61–65
  • 9. Çoğulu Ö. Tıbbi Genetik Laboratuvar ve Klinik, Ankara: Nobel Tıp Kitabevi, 2017; 226-230.
  • 10. Yeşilkaya E, Bereket A, Darendeliler F, et all. Turner Syndrome and Associated Problems in Turkish Children: A Multicenter Study. J Clin Res Pediatr Endocrinol 2015;7(1):27-36
  • 11. Sari E, Bereket A, Yeşilkaya E, et all. Anthropometric Findings From Birth to Adulthood and Their Relation with Karyotpye Distribution in Turkish Girls with Turner Syndrome. Am J Med Genet Part 2016; 170A(4):942–948.
  • 12. Oliveira CS, Alves C. The role of the shox gene in the pathophysiology of turner syndrome. Endocrinol Nutr 2011; (58)433-442.
  • 13. Ogata T, Matsuo N, ,Nishimura G. Shox haploinsufficiency and overdosage: Impact of gonadal function status. J Med Genet 2001; 38, 1-6.
  • 14. Torun D, Kavuş H, Öztuna A, et all. Boy kısalığı nedeni ile takip edilen kız çocuklarında karyotip analizi sonuçlarımız. Gülhane Tıp Derg 2017;59: 21-23.
  • 15. Ross JL, Quigley CA, Cao D, et al. Growth hormone plus childhood low-dose estrogen in Turner’s syndrome. N Engl J Med 2011; 364: 1230–1242.
  • 16. Ballerini MG, Braslavsky D, Scaglia PA, et all. Circulating IGF-I, IGFBP-3 and the IGF-I/IGFBP-3 Molar Ratio Concentration and Height Outcome in Prepubertal Short Children on rhGH Treatment over Two Years of Therapy. Horm Res Paediatr 2017;88(5):354-363.
  • 17. Danda VS, Sreedevi P, Arun G, et all. Growth Hormone Treatment in Turner's Syndrome: A Real World Experience. Indian J Endocrinol Metab 2017;21(3):378-381.
  • 18. Iughetti L, Tornese G, Street ME, et all. Long-term safety and efficacy of Omnitrope, a somatropin biosimilar, in children requiring growth hormone treatment: Italian interim analysis of the PATRO Children study. Ital J Pediatr 2016;42(1):93.
  • 19. Dauber A, Rosenfeld RG, Hirschhorn JN. Genetic evaluation of short stature. J Clin Endocrinol Metab 2014;99:3080-3092.
  • 20. Wit JM, Clayton PE, Rogol AD, et all. Idiopathic short stature: definition, epidemiology, and diagnostic evaluation. Growth Horm IGF Res 2008;18:89-110.
  • 21. Yuce H, Eroz R, Dogan M, et all. Uluslararası Katılımlı XI. Türk-Alman Jinekoloji Kongresi Konferansı Dahilinde bildiri kitapçığındaki ‘‘Chromosomal Analaysis Results of 268 Female Patients with habitual abortus etiology who Admitted to Duzce University Research and Application Hospital between 2011 and 2015 in Western Blacksea Region’’, Antalya: 2016; P-066.
  • 22. Doğan M, Eröz R, Yüce H, Gümüs AA et all. Uluslararası Katılımlı XII. Ulusal Tıbbi Genetik Kongresi Dâhilinde ‘‘bildiri olarak sunulan’’ kongre kitapçığındaki ‘‘A Mosaic Turner Syndrome with Unbalanced Translocation’’, İzmir: 2016; P-049.
  • 23. Gümüs AA, Doğan M, Eröz R, et all. Uluslararası Katılımlı XII. Ulusal Tıbbi Genetik Kongresi Dâhilinde ‘‘bildiri olarak sunulan’’ kongre kitapçığındaki ‘‘Habitüel abortuslu bir olguda mozaik Turner Sendromu’’, İzmir: 2016; P-065.
  • 24. Rojek A, Obara M, Kolesinska Z, et all. Molecular Detection and Incidence of Y Chromosomal Material in Patients with Turner Syndrome. Sex Dev 2017; 11(5-6):254-261.
  • 25. Dogan M, Eroz R, Bolu S, et all. A Boy With Short Stature, Unusual Findings And Low Percentage Of 45,X(4%) / 46,XY(96%) Mosaicısm: A Clinical Report And Review Of The Literature. Genetic Counselling 2016; Vol. 27, No 2, pp 269-272.
There are 25 citations in total.

Details

Primary Language Turkish
Subjects Health Care Administration
Journal Section Articles
Authors

Mustafa Dogan

Recep Eröz

Semih Bolu

Hüseyin Yüce

Publication Date August 15, 2018
Acceptance Date June 12, 2018
Published in Issue Year 2018 Volume: 10 Issue: 2

Cite

APA Dogan, M., Eröz, R., Bolu, S., Yüce, H. (2018). Turner Sendromlu Olgularımızın Karyotip Kompozisyonlarının Başvuru Şikayetleri ve Antropometrik Verileri ile Birlikte Değerlendirilmesi. Konuralp Medical Journal, 10(2), 248-252. https://doi.org/10.18521/ktd.414179
AMA Dogan M, Eröz R, Bolu S, Yüce H. Turner Sendromlu Olgularımızın Karyotip Kompozisyonlarının Başvuru Şikayetleri ve Antropometrik Verileri ile Birlikte Değerlendirilmesi. Konuralp Medical Journal. August 2018;10(2):248-252. doi:10.18521/ktd.414179
Chicago Dogan, Mustafa, Recep Eröz, Semih Bolu, and Hüseyin Yüce. “Turner Sendromlu Olgularımızın Karyotip Kompozisyonlarının Başvuru Şikayetleri Ve Antropometrik Verileri Ile Birlikte Değerlendirilmesi”. Konuralp Medical Journal 10, no. 2 (August 2018): 248-52. https://doi.org/10.18521/ktd.414179.
EndNote Dogan M, Eröz R, Bolu S, Yüce H (August 1, 2018) Turner Sendromlu Olgularımızın Karyotip Kompozisyonlarının Başvuru Şikayetleri ve Antropometrik Verileri ile Birlikte Değerlendirilmesi. Konuralp Medical Journal 10 2 248–252.
IEEE M. Dogan, R. Eröz, S. Bolu, and H. Yüce, “Turner Sendromlu Olgularımızın Karyotip Kompozisyonlarının Başvuru Şikayetleri ve Antropometrik Verileri ile Birlikte Değerlendirilmesi”, Konuralp Medical Journal, vol. 10, no. 2, pp. 248–252, 2018, doi: 10.18521/ktd.414179.
ISNAD Dogan, Mustafa et al. “Turner Sendromlu Olgularımızın Karyotip Kompozisyonlarının Başvuru Şikayetleri Ve Antropometrik Verileri Ile Birlikte Değerlendirilmesi”. Konuralp Medical Journal 10/2 (August 2018), 248-252. https://doi.org/10.18521/ktd.414179.
JAMA Dogan M, Eröz R, Bolu S, Yüce H. Turner Sendromlu Olgularımızın Karyotip Kompozisyonlarının Başvuru Şikayetleri ve Antropometrik Verileri ile Birlikte Değerlendirilmesi. Konuralp Medical Journal. 2018;10:248–252.
MLA Dogan, Mustafa et al. “Turner Sendromlu Olgularımızın Karyotip Kompozisyonlarının Başvuru Şikayetleri Ve Antropometrik Verileri Ile Birlikte Değerlendirilmesi”. Konuralp Medical Journal, vol. 10, no. 2, 2018, pp. 248-52, doi:10.18521/ktd.414179.
Vancouver Dogan M, Eröz R, Bolu S, Yüce H. Turner Sendromlu Olgularımızın Karyotip Kompozisyonlarının Başvuru Şikayetleri ve Antropometrik Verileri ile Birlikte Değerlendirilmesi. Konuralp Medical Journal. 2018;10(2):248-52.