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A new interesting article has been published in Steroids. 2019 Dec; 152:108489. doi: 10.1016/j.steroids.2019.108489. Epub 2019 Sep 6. and titled:

Identification of two additional novel mutations in the AR gene associated with severe forms of androgen insensitivity syndrome.

Authors of this article are:

Kharrat M, Tajouri A, Nacef IB, Hizem C, Trabelsi M, Maazoul F, M’rad R, Chaabouni HB.

A summary of the article is shown below:

The Androgen insensitivity syndrome (AIS) in its complete form (CAIS) is a disorder in abnormal male development characterized by a complete female phenotype in a 46,XY individual. The most frequent cause of this disorder is a hemizygous mutation in androgen receptor (AR) gene located in X chromosome. The first aim of this study was to confirm the clinical diagnosis in a series of Tunisian patients with a typical phenotype of CAIS by molecular genetic analysis. The second aim was to determine the AR mutational profile in the local population. The entire coding region and the exon-intron junctions of the AR gene were sequenced in a series of ten patients. AR defects were found in nine patients. Despite the small number of cases, two of the nine identified mutations were novel. The first novel mutation was an 8-bp deletion in exon 1 (c.862_869del) resulting in a frameshift (p.A288Qfs*14). The second was a splice site mutation c.1885 + 1G > T (IVS3 + 1G > T). In this study, genetic testing has confirmed the diagnosis of most CAIS patients and has revealed two novel mechanisms responsible for the pathogenesis of AIS, as well as seven other reported mutations.Copyright © 2019 Elsevier Inc. All rights reserved.

Check out the article’s website on Pubmed for more information:

This article is a good source of information and a good way to become familiar with topics such as: Androgen insensitivity syndrome; Androgen receptor (AR); Novel mutation; X chromosome; XY DSD.

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