PDF(Pubmed)
Abstract：
Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive disorder associated with progressive extrapyramidal signs, mental retardation, alopecia, and a variety of endocrine deficiencies, including diabetes mellitus, hypogonadism, and hypothyroidism. To date, approximately 98 genetically confirmed WSS families have been reported worldwide. This report focuses on a new genetic variant detected in 2 WSS-affected sisters with distinctive phenotypical features. The case under review is of special interest due to the multiple manifestations of WSS. This is the first family case of WSS identified in the Russian Federation. Although there is no specific treatment for WSS, genetic testing makes it possible to diagnose WSS, make a prognosis, and provide comprehensive patient-oriented treatment.
摘要：
Woodhouse-Sakati综合征（WSS）是一种罕见的常染色体隐性遗传疾病，与进行性锥体外系体征有关，智力迟钝,脱发,和各种内分泌缺陷，包括糖尿病,性腺功能减退,和甲状腺功能减退。迄今为止,全世界已经报道了大约98个基因证实的WSS家族。本报告着重于在2个受WSS影响的姐妹中检测到的具有独特表型特征的新遗传变异。由于WSS的多种表现形式，所审查的案件具有特殊意义。这是俄罗斯联邦确定的第一个WSS家庭病例。尽管没有针对WSS的特定治疗方法，基因检测可以诊断WSS，做出预测，并提供全面的面向患者的治疗。
