Journal of Clinical Case Reports

Department of Medical Genetics, University of Umm Al-Qura, Mecca, Saudi Arabia

Publications

• 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

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