A Case of Ankylosing Spondylitis and Ichthyosis Vulgaris in a Turner Syndrome Patient with a Rare Karyotype

Abstract

ABSTRACT: Objective: Turner syndrome (TS) is a chromosomal disorder in which patients have either a missing X chromosome (45,X), a structural aberration of sex chromosome, or mosaicism including mos 45,X/46,XY. We present a case of TS with unusual ankylosing spondylitis (AS) and ichthyosis vulgaris (IV) carrying a rare karyotype of 45,X[100]/46,X,idic(Yp)[12](pter-q11::q11-pter).Methods: A review of the literature was conducted to identify previous case reports pertaining to TS accompanied with AS and compare them with the current case.Results: The patient presented with positive human leukocyte antigen (HLA) B27, lowered estrogen, and elevated follicle-stimulating hormone and luteinizing hormone levels. Ultrasound examination showed no uterus or ovaries. The patient carried a mosaic karyotype of 45,X[100]/46,X,idic(Yp)[25].ish(DXYS129+,DXYS153+ +,SRY++,DYZ3++,Yq12-) for metaphase peripheral blood lymphocytes and 45,X[100].ish(DYZ3-) for interphase buccal cells. Molecular genetic analysis revealed that the sex-determining region Y (SRY) gene was present in the patient's peripheral blood but negative in buccal cells.Conclusion: TS patients can develop autoimmune diseases such as AS. Fluorescence in situ hybridization (FISH) can provide more detailed karyotypical information than common cytogenetic methods.Abbreviations: AS ankylosing spondylitis FISH fluorescence in situ hybridization IV ichthyosis vulgaris SRY sex-determining region Y TS Turner syndrome