Juvenile ankylosing spondylitis in Turner syndrome.
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Date
2013-11
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Abstract
Juvenile ankylosing spondylitis (JAS) is a chronic autoimmune
disorder which causes considerable morbidity when left
untreated; it occurs predominantly in men. We describe an
Asian Indian woman who had JAS with phenotypic features of
Turner syndrome (TS) and was found to be a mosaic for 45,
X/46, X, psu idic (X) (p11) by karyotyping and fluorescence
in situ hybridization (FISH) studies of peripheral blood. The
absence of Y chromosome material was confirmed by FISH.
Haplo-insufficiency of the X chromosome can predispose to
autoimmunity. To the best of our knowledge, this is the first
report of JAS in association with mosaic Turner syndrome.
This case highlights the possible effects of gene dosage in
development of an autoimmune disease.
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Citation
SANDHYA P, DANDA DEBASHISH, DANDA SUMITA, SRIVASTAVA VIVI M. Juvenile ankylosing spondylitis in Turner syndrome. National Medical Journal of India. 2013 Nov-Dec ; 26 (6): 338-339.