ABSTRACT
Turner syndrome (TS) complicated with Madelung deformity and complex brachydactyly are rare clinically, and it is even rarer to combine with ankylosing spondylitis (AS). This article reports a case of a 36 year-old female patient who was admitted to the hospital with "ankylosing spondylitis" due to repeated back, hip and knee pain for 11 years and aggravated for 1 month. After admission, the karyotype showed "46, X, i (Xq)" due to short stature, dysplasia of secondary sexual characteristics, limb deformity etc, thus confirming TS. Further examination revealed bilateral Madelung deformity and complex brachydactyly characterized by shortening of the fourth metacarpal, multiple missing and shortened middle phalanxes. By reviewing the relevant literature, we believe that autoimmune diseases such as AS should be excluded in TS patients. TS aggravates the inflammatory response of AS, but the combination of TS and AS is more likely to be an accidental event. Patients with Madelung deformity should be careful to exclude TS. Madelung deformity and shortening of the fourth metacarpal are mainly associated with haploinsufficiency of SHOX gene. Brachydactyly characterized by multiple loss and shortening of the middle phalanx may be a new clinical manifestation of TS, especially the karyotype of 46, X, i (Xq). It is possible that there are some genes on the short arm of X chromosome, which regulate the number, growth and development of fingers. Early estrogen replacement therapy can greatly benefit patients.
ABSTRACT
Objective To explore the association between SLC2A9,SLC17A3,ABCG2 single nucleotide polymorphisms and gout susceptibility in Quanzhou.Methods One hundred and fifty-four cases of gout patients and 160 healthy controls were selected,single nucleotide polymorphisms (SNP) of SLC2A9 SLC17A3,ABCG2 with tri-primer polymerase chain reaction (PCR) were tested and the relation between different genotypes and primary gout prevalence were analyzed.Results High risk genotype frequency of rs16890979 was 93.5％ and 70.0％ in patients and healthy people,respectively (the difference of genotype frequency between the two groups was statistically significant (x2=55.377,P＜0.01).High risk allele frequency was 79.9％ and 48.4％ in patients and healthy people,respectively (allele frequency in different population was statistically significant,x2=67.128,P＜0.01).High risk genotype frequency of rs2231142 was 68.8％ and 38.7％ in patients and healthy people,respectively (the difference of the genotype frequency was statistically significant,x2=29.129,P＜0.01);High risk allele frequency was 43.5％ and 23.4％ in patients and healthy people,respectively (the difference of allele frequency was statistically significant,x2=28.468,P＜0.01) ; rs1165205was a protective SNP,low risk genotype frequency was 42.2％ and 45.6％ in patients and healthy people,respectively (the difference of genotype frequency was statistically significant,x2=0.373,P=0.571); High risk allele frequency was 26.0％ and 28.1％ in patients and healthy people,respectively (the difference of allele frequency was not statistically significant,x2=0.270,P=0.364).Conclusion SNP loci rs16890979 of SLC2A9 gene and rs2231142 of ABCG2 gene can be used as genetic markers for primary gout susceptibility in the Quanzhou area,but SNP loci rs1165205 of SLC17A3 gene has little correlation with the prevalence of primary gout in Quanzhou residents.