Complete androgen insensitivity syndrome with microtia: a rare presentation

被引：2

作者：

Chauhan, Narvir Singh ^{[1
]}

Sharma, Yash Paul ^{[1
]}

Sharma, Sanjeev ^{[2
]}

Sharma, Saurabh ^{[3
]}

机构：

[1] Rajendra Prasad Govt Med Coll Campus, Dept Radiodiag, Tanda 176001, Himachal Prades, India

[2] Dr Rajendra Prasad Govt Med Coll, Dept Surg, Tanda, Himachal Prades, India

[3] Dr Rajendra Prasad Govt Med Coll, Dept Pathol, Tanda, Himachal Prades, India

来源：

JAPANESE JOURNAL OF RADIOLOGY | 2011年 / 29卷 / 01期

关键词：

Complete androgen insensitivity syndrome; Microtia; Mullerian agenesis; Ectopic gonads; Primary amenorrhea;

D O I：

10.1007/s11604-010-0501-6

中图分类号：

R8 [特种医学]; R445 [影像诊断学];

学科分类号：

1002 ; 100207 ; 1009 ;

摘要：

Complete androgen insensitivity syndrome (CAIS) is a rare X-linked disorder characterized by a female body habitus and male genotype. The Mullerian duct derivatives are absent or rudimentary, and the testes are undescended. Microtia is characterized by a malformed auricle; and in some cases it is genetically transmitted with a non-sex-linked inheritance pattern. The presence of CAIS with microtia has not been documented previously, and this is the first case to describe the radiological findings of this rare presentation.

引用

页码：67 / 71

页数：5

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