Department of Research and Studies, Ministry of Health, Jeddah, Saudi Arabia
Research Article
Androgen Receptor Gene Mosaicism in Partial Androgen Insensitivity Syndrome Patient Detected by Whole Exome Sequencing
Author(s): Zohor Azher*, Mohammed Almatrafi, Abdullatif Almarashi and Abdulaziz Baazeem
Androgen insensitivity syndrome is the most frequent etiology of disorders of sex development in 46,XY individuals. It is characterized by evidence
of feminization of the external genitalia at birth, abnormal secondary sexual development in puberty, and male infertility. It is an X-linked recessive
disease caused by alterations in the androgen receptor (AR) gene, resulting in a spectrum of androgens resistance. The clinical phenotype can be
classified into complete, partial, and mild forms. We report a male patient presenting clinical manifestations of partial phenotype: primary infertility,
severe oligozoospermia, bilateral gynecomastia, decreased body hair distribution, and hypospadias. Whole exome sequencing (WES) revealed a
hemizygous variant in the AR gene with a significantly reduced allele ratio compared with a normal hemizygous allele in male, which is cons.. Read More»
DOI:
10.37421/2165-7920.2022.12.1536
Journal of Clinical Case Reports received 1295 citations as per Google Scholar report