完全雄激素不敏感综合征腹股沟疝的潜在风险。

IF 16.4 1区化学 Q1 CHEMISTRY, MULTIDISCIPLINARY Accounts of Chemical Research Pub Date : 2023-01-01 DOI:10.1297/cpe.2022-0058

Yu Kimizuka, Takeshi Sato, Satsuki Nakano, Tomohiro Ishii, Tomonobu Hasegawa

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Potential risk of inguinal hernia in complete androgen insensitivity syndrome.

Complete androgen insensitivity syndrome (CAIS) presents as female external genitalia despite elevated serum testosterone levels and an XY karyotype, because of compromised androgen action owing to androgen receptor (AR) defects (1). Sporadic CAIS is usually diagnosed based on inguinal hernia (IH) or primary amenorrhea (1, 2). When CAIS is diagnosed in neonates or infants before the development of IH, it is unknown whether the potential risk of IH should be addressed during genetic counseling. Here, we report the case of an infant with CAIS who developed IH during follow-up, conveying the importance of sharing the potential risk of IH with parents soon after the diagnosis of CAIS.

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来源期刊

Accounts of Chemical Research 化学-化学综合

CiteScore

31.40

自引率

1.10%

发文量

312

审稿时长

2 months

期刊介绍： Accounts of Chemical Research presents short, concise and critical articles offering easy-to-read overviews of basic research and applications in all areas of chemistry and biochemistry. These short reviews focus on research from the author’s own laboratory and are designed to teach the reader about a research project. In addition, Accounts of Chemical Research publishes commentaries that give an informed opinion on a current research problem. Special Issues online are devoted to a single topic of unusual activity and significance. Accounts of Chemical Research replaces the traditional article abstract with an article "Conspectus." These entries synopsize the research affording the reader a closer look at the content and significance of an article. Through this provision of a more detailed description of the article contents, the Conspectus enhances the article's discoverability by search engines and the exposure for the research.