1例特殊家族史的完全性雄激素不敏感综合征及其遗传学分析

A case of complete androgen insensitivity syndrome with special family history and its genetic analysis

目的:报道1例有特殊家族史的完全性雄激素不敏感综合征患者及其遗传学分析。方法:记录、整理该患者病史、诊断、治疗方法等临床信息,取患者及其母亲血样进行全外显子测序,分析遗传学病因。结果:该患者因“原发性闭经”就诊,染色体核型为46,XY,为男性假两性畸形。经手术证实,腹腔内有未降的睾丸。雄激素水平高于正常值上限,患者与其母亲全外显子测序均发现c.2678C>T(p.P893L),未发现其他异常,该突变为完全性雄激素不敏感综合征的疑似致病突变。且患者有一“姐姐”具有相似病史。结论:c.2678C>T(p.P893L)为完全性雄激素不敏感综合征的疑似致病突变,且该病常至青春期方可发现,易延误诊断。

Objective:To report a case of complete androgen insensitivity syndrome with a special family history and its genetic analysis.Methods:We studied the medical history,diagnosis and treatment of a case of complete androgen insensitivity syndrome,collected blood samples from the patient and his mother for whole exome sequencing,and analyzed the genetic etiology.Results:The patient presented with"primary amenorrhea"and diagnosed with male pseudohermaphroditism,with the karyotype as 46,XY.Surgery confirmed undescended testes in the abdominal cavity.The androgen level was higher than normal.Whole exome sequencing of the patient and his mother found c.2678 C>T(p.P893 L)but no other abnormalities,which was considered as a suspected pathogenic mutation of complete androgen insensitivity syndrome.The patient had a"sister"with a similar medical history.Conclusion:c.2678 C>T(p.P893 L)is a suspected pathogenic mutation of complete androgen insensitivity syndrome,which usually cannot be detected until puberty,making it easy to delay the diagnosis.