Ankylosing spondylitis complicating Turner syndrome: Two case reports and a literature review. 2020

Fang-Fei Chen, and Xue-Han Zhang, and Yang Jiao
Department of General Internal Medicine.

BACKGROUND Turner syndrome (TS) is an anomaly caused by loss of part of or all the X chromosomes. Ankylosing spondylitis (AS) is an HLA-B27-associated autoimmune disease with a male predominance. It is widely accepted that TS patients are at higher risk of autoimmune diseases, but AS in TS patients has only rarely been reported. METHODS A 13-year-old TS patient presented with intermittent pain in both hip joints, and a 27-year-old TS patient presented with thoracic kyphosis and a history of AS. METHODS Both patients were diagnosed with AS according to their symptoms, laboratory results, and imaging. METHODS The first patient was treated with tocilizumab for 8 months, whereas the second patient was treated with diclofenac initially with subsequent surgery for thoracic kyphosis. RESULTS Treatment relieved the symptoms of both patients and laboratory parameters improved. CONCLUSIONS Even though AS has a male predominance, clinicians should be aware that AS and TS may co-exist and that the clinical features are atypical in TS patients with AS.

UI MeSH Term Description Entries
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000293 Adolescent A person 13 to 18 years of age. Adolescence,Youth,Adolescents,Adolescents, Female,Adolescents, Male,Teenagers,Teens,Adolescent, Female,Adolescent, Male,Female Adolescent,Female Adolescents,Male Adolescent,Male Adolescents,Teen,Teenager,Youths
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults
D013167 Spondylitis, Ankylosing A chronic inflammatory condition affecting the axial joints, such as the SACROILIAC JOINT and other intervertebral or costovertebral joints. It occurs predominantly in young males and is characterized by pain and stiffness of joints (ANKYLOSIS) with inflammation at tendon insertions. Ankylosing Spondylitis,Bechterew Disease,Marie-Struempell Disease,Rheumatoid Spondylitis,Spondylarthritis Ankylopoietica,Ankylosing Spondylarthritis,Ankylosing Spondyloarthritis,Bechterew's Disease,Spondylitis Ankylopoietica,Spondyloarthritis Ankylopoietica,Ankylosing Spondylarthritides,Ankylosing Spondyloarthritides,Bechterews Disease,Marie Struempell Disease,Spondylarthritides, Ankylosing,Spondylarthritis, Ankylosing,Spondylitis, Rheumatoid,Spondyloarthritides, Ankylosing,Spondyloarthritis, Ankylosing
D014424 Turner Syndrome A syndrome of defective gonadal development in phenotypic females associated with the karyotype 45,X (or 45,XO). Patients generally are of short stature with undifferentiated GONADS (streak gonads), SEXUAL INFANTILISM, HYPOGONADISM, webbing of the neck, cubitus valgus, elevated GONADOTROPINS, decreased ESTRADIOL level in blood, and CONGENITAL HEART DEFECTS. NOONAN SYNDROME (also called Pseudo-Turner Syndrome and Male Turner Syndrome) resembles this disorder; however, it occurs in males and females with a normal karyotype and is inherited as an autosomal dominant. Bonnevie-Ullrich Syndrome,Gonadal Dysgenesis, 45,X,Gonadal Dysgenesis, XO,Monosomy X,Status Bonnevie-Ullrich,Turner's Syndrome,Ullrich-Turner Syndrome,Bonnevie Ullrich Syndrome,Status Bonnevie Ullrich,Syndrome, Ullrich-Turner,Turners Syndrome,Ullrich Turner Syndrome,XO Gonadal Dysgenesis

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