| Item type |
itemtype_ver1(1) |
| 公開日 |
2023-05-26 |
| タイトル |
|
|
タイトル |
An extremely rare missense mutation of the androgen receptor gene in a Vietnamese family with complete androgen insensitivity syndrome |
|
言語 |
en |
| 著者 |
Ha, Thi Minh Thi
Le, Phan Tuong Quynh
Le, Thanh Nha Uyen
Hoang, Thi Thuy Yen
|
| アクセス権 |
|
|
アクセス権 |
open access |
|
アクセス権URI |
http://purl.org/coar/access_right/c_abf2 |
| 権利 |
|
|
言語 |
en |
|
権利情報Resource |
http://creativecommons.org/licenses/by-nc-nd/4.0/ |
|
権利情報 |
Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International |
| キーワード |
|
|
主題Scheme |
Other |
|
主題 |
androgen insensitivity syndrome |
| キーワード |
|
|
主題Scheme |
Other |
|
主題 |
androgen receptor gene |
| キーワード |
|
|
主題Scheme |
Other |
|
主題 |
c.2170C>T (p.Pro274Ser) |
| キーワード |
|
|
主題Scheme |
Other |
|
主題 |
primary amenorrhea |
| キーワード |
|
|
主題Scheme |
Other |
|
主題 |
testes in the inguinal canals |
| 内容記述 |
|
|
内容記述タイプ |
Abstract |
|
内容記述 |
We report a Vietnamese family with complete androgen insensitivity syndrome that included several phenotypic females who have a 46,XY karyotype with an extremely rare mutation of the androgen receptor gene. The proband was a 27-year-old phenotypic adult female referred to our department for karyotyping due to primary amenorrhea. Ultrasound examination revealed a small uterus. Chromosomal analysis showed a 46,XY karyotype. A polymerase chain reaction assay revealed the presence of the sex-determining region Y gene. Next-generation sequencing detected the NM_000044.6(AR):c.2170C>T(p.Pro274Ser) mutation, which was confirmed by Sanger sequencing. There is only one previous report of this mutation in a child with complete androgen insensitivity syndrome. In the family presented in this study, there were four more phenotypic adult females with primary amenorrhea and a phenotypic female infant with testes in the inguinal canals. The infant (first cousin once removed of the proband) presented with inguinal hernia/swelling in a phenotypic female and one of the four abovementioned adults had similar genetic analysis results. This is the second report of a missense mutation NM 000044.6(AR):c.2170C>T in the world and the first study to document a pedigree consisting of several individuals with CAIS as a result of this mutation. The presence of a tiny uterus in the proband, which is a rare occurrence in complete androgen insensitivity syndrome, is a unique clinical indicator of the disorder’s variable expressivity. |
|
言語 |
en |
| 内容記述 |
|
|
内容記述タイプ |
Other |
|
内容記述 |
This is an Open Access article distributed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License. To view the details of this license, please visit (http://creativecommons.org/licenses/by-nc-nd/4.0/). |
|
言語 |
en |
| 出版者 |
|
|
出版者 |
Nagoya University Graduate School of Medicine, School of Medicine |
|
言語 |
en |
| 言語 |
|
|
言語 |
eng |
| 資源タイプ |
|
|
資源タイプ識別子 |
http://purl.org/coar/resource_type/c_6501 |
|
資源タイプ |
departmental bulletin paper |
| 出版タイプ |
|
|
出版タイプ |
VoR |
|
出版タイプResource |
http://purl.org/coar/version/c_970fb48d4fbd8a85 |
| ID登録 |
|
|
ID登録 |
10.18999/nagjms.85.2.362 |
|
ID登録タイプ |
JaLC |
| 関連情報 |
|
|
関連タイプ |
isVersionOf |
|
|
識別子タイプ |
URI |
|
|
関連識別子 |
https://www.med.nagoya-u.ac.jp/medlib/nagoya_j_med_sci/852.html |
| 収録物識別子 |
|
|
収録物識別子タイプ |
PISSN |
|
収録物識別子 |
0027-7622 |
| 収録物識別子 |
|
|
収録物識別子タイプ |
EISSN |
|
収録物識別子 |
2186-3326 |
| 書誌情報 |
en : Nagoya Journal of Medical Science
巻 85,
号 2,
p. 362-368,
発行日 2023-05
|
16_Ha.pdf (16.8 MB)
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