Yeungnam Univ J Med.  2017 Jun;34(1):80-83. 10.12701/yujm.2017.34.1.80.

Ankylosing spondylitis associated with balanced reciprocal X-1 translocation

• Kim YH
• Lee JO

• KMID: 2400333
• DOI: http://doi.org/10.12701/yujm.2017.34.1.80

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.

Keyword

Ankylosing spondylitis; Genetic translocation; Hypogonadism

MeSH Terms

Adult
Buttocks
Female
Humans
Hypogonadism
Joints
Magnetic Resonance Imaging
Ovary
Spondylitis, Ankylosing*
Translocation, Genetic
Uterus