A Novel Androgen Receptor Gene Mutation in a 46,XY Patient: Complete Androgen Insensitivity Syndrome
August 2015
in “
AACE Clinical Case Reports
”
TLDR A new gene mutation causes complete androgen insensitivity in a 16-year-old with a female appearance.
The study reported a novel androgen receptor gene mutation in a 16-year-old patient with complete androgen insensitivity syndrome (CAIS), characterized by a female phenotype, primary amenorrhea, and lack of pubic and axillary hair. A hemizygous frameshift mutation in the AR gene was identified as the cause. The study underscored the importance of considering 46,XY disorders of sex development in similar cases and recommended karyotype analysis. It also discussed the risk of testicular tumors, advising gonadectomy after puberty to allow for estrogen benefits.
