Turner综合征并发马德隆畸形、复杂短指症且合并强直性脊柱炎一例报告

Turner syndrome with Madelung deformity,complex brachydactyly and ankylosing spondylitis:A case report

Turner综合征(Turner syndrome,TS)并发马德隆畸形、复杂短指症在临床上是很少见的,再合并强直性脊柱炎(ankylosing spondylitis,AS)则更为罕见。报告1例36岁女性患者,因反复腰背、髋、膝疼痛11年,加剧1个月,以“强直性脊柱炎”收住入院,入院后因身高矮小、第二性征发育不良、肢体畸形等,行染色体核型示“46,X,i(Xq)”,从而确诊Turner综合征,进一步检查发现双侧马德隆畸形及以第4掌骨短缩、多发中节指骨缺失、短缩为特征的复杂短指症。通过复习相关文献,考虑Turner综合征患者应排除合并AS等自身免疫性疾病,Turner综合征加重AS的炎症反应,但Turner综合征合并AS更可能是偶然事件。马德隆畸形患者应注意排除Turner综合征,马德隆畸形及第4掌骨短缩主要与SHOX基因的单倍体不足有关,而多发中节指骨缺失、短缩为特征的短指症可能是Turner综合征,尤其46,X,(i Xq)核型的一个新的临床表现,X染色体短臂上可能存在相关基因调控手指的数量、生长及发育。早期的雌激素替代治疗可使患者得到极大的获益。

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 re⁃sponse 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 haploinsufficien⁃cy of SHOX gene.Brachydactyly characterized by multiple loss and shortening of the middle phalanx may be a new clinical mani⁃festation 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.