Journal of Yeungnam Medical Science

Yeungnam University College of Medicine, Yeungnam University Institute Medical Science (영남대 의대 학술지 편집위원회)
권호 표지
DOI QR코드

DOI QR Code

Ankylosing spondylitis associated with balanced reciprocal X-1 translocation

X염색체와 1번 염색체간 균형전위와 동반된 강직척추염

  • Kim, Young Hoon (Department of Internal Medicine, Busan St. Mary's Hospital) ;
  • Lee, Jung Ouk (Department of Internal Medicine, Busan St. Mary's Hospital)
  • Received : 2015.07.06
  • Accepted : 2015.09.08
  • Published : 2017.06.30
Download PDF
⟨ Previous Next ⟩

Abstract

A number of research papers have reported more frequent occurrence of rheumatic/autoimmune disease among patients with hypogonadism or a chromosomal anomaly with potential X-chromosome defects. A 30-year-old female patient came to the hospital with a main cause of bilateral buttock pain, which began two years ago and worsened seven days ago. Ankylosing spondylitis with invasion of both sacral-iliac joints was observed. On magnetic resonance imaging, although the uterus was observed normally, an ovary was not observed. In a chromosome test, balanced reciprocal X-1 translocation of 46,X,t(X;1)(p10;q10) was diagnosed. Here, we report on the first case involving ankylosing spondylitis accompanied by balanced reciprocal X-1 translocation.

Keywords

References

  1. Duhan N, Malik R, Upadhyaya M. Balanced reciprocal X-1 translocation (46,X,t(X;1)(q22;p32) and primary amenorrhea. Eur J Obstet Gynecol Reprod Biol 2014;181:338-9. https://doi.org/10.1016/j.ejogrb.2014.08.018
  2. Hwang SH, Lee SM, Seo EJ, Choi KU, Park HJ, Park NC, et al. A case of male infertility with a reciprocal translocation t(X;14)(p11.4;p12). Korean J Lab Med 2007;27:139-42. Korean. https://doi.org/10.3343/kjlm.2007.27.2.139
  3. Binkert F, Spreiz A, Höckner M, Miny P, von Dach Leu B, Erdel M, et al. Parental origin and mechanism of formation of a 46,X,der(X)(pter${\rightarrow}$q21.1::p11.4${\rightarrow}$pter)/45,X karyotype in a woman with mild Turner syndrome. Fertil Steril 2010; 94:350.e12-5.
  4. Waters JJ, Campbell PL, Crocker AJ, Campbell CM. Phenotypic effects of balanced X-autosome translocations in females: a retrospective survey of 104 cases reported from UK laboratories. Hum Genet 2001;108:318-27. https://doi.org/10.1007/s004390100465
  5. Braun J, Sieper J. Ankylosing spondylitis. Lancet 2007;369 (9570):1379-90. https://doi.org/10.1016/S0140-6736(07)60635-7
  6. Tsui FW, Tsui HW, Akram A, Haroon N, Inman RD. The genetic basis of ankylosing spondylitis: new insights into disease pathogenesis. Appl Clin Genet 2014;7:105-15.
  7. Hoyle E, Laval SH, Calin A, Wordsworth BP, Brown MA. The X-chromosome and susceptibility to ankylosing spondylitis. Arthritis Rheum 2000;43:1353-5. https://doi.org/10.1002/1529-0131(200006)43:6<1353::AID-ANR19>3.0.CO;2-B
  8. Onose G, Peretianu D, Zaharescu J, Motoiu S. Correlations between spondylarthropathic inflammatory troubles and gonadal (androgenic) troubles in men. Study on 30 cases with a new methodological analysis. Rom J Intern Med 1995;33: 93-111.
  9. Jimenez-Balderas FJ, Tapia-Serrano R, Fonseca ME, Arellano J, Beltran A, Yanez P, et al. High frequency of association of rheumatic/autoimmune diseases and untreated male hypogonadism with severe testicular dysfunction. Arthritis Res 2001;3:362-7. https://doi.org/10.1186/ar328
  10. Jun BY, Lee GJ, Kim JH, Lee JM, Chang SA. Primary hypogonadism associated with ankylosing spondylitis. J Korean Endocr Soc 2008;23:352-7. Korean. https://doi.org/10.3803/jkes.2008.23.5.352
  11. Kim YS, Jeong YJ, Kim HS. A case of ankylosing spondylitis associated with Turner’s syndrome. J Rheum Dis 2011;18: 208-11. Korean. https://doi.org/10.4078/jrd.2011.18.3.208