This syndrome is caused by a mutation in the androgen receptor gene. Therefore, the body cannot respond to androgens.
The unresponsiveness of the body to the presence of androgenic hormones prevents masculinization of the male genitalia as well as the development of male secondary sexual characteristics. Therefore, individuals with complete androgen insensitivity appear female.
People with androgen insensitivity syndrome have the genetic composition of 46 chromosomes with XY sex chromosomes. Therefore, these individuals are genetically male.
The unresponsiveness of the body to the presence of androgenic hormones prevents masculinization of the male genitalia as well as the development of male secondary sexual characteristics. Therefore, individuals with complete androgen insensitivity are phenotypically female with female external genitalia.
The Mullerian system, which includes the fallopian tubes, uterus, and upper portion of the vagina, typically regresses due to the presence of anti-mullerian hormone secreted from the Sertoli cells of the testes. Therefore, individuals with androgen insensitivity syndrome are born without fallopian tubes, uterus, and a rudimentary vagina that ends as a blind pouch.
Individuals with androgen insensitivity syndrome have diminished or absent sexual hair due to lack of androgen response.
During the embryonic stage of development, testes form in an androgen-independent process that occurs due to the influence of the SRY gene on the Y chromosome. Therefore, individuals with this syndrome still have testes that may be located intraabdominally or may herniate into the labia majora.
Immature sperm cells in the testes are arrested at an early stage and do not mature since sensitivity to androgens is required for spermatogenesis. Individuals with this syndrome have a higher risk for germ cell malignancies and the testes are often removed.
Due to androgen receptor defect, there is lack of feedback inhibition of the hypothalamic pituitary gonadal axis. Therefore, there are increased levels of leutinizing hormone and testosterone, which is aromatized into estrogen.
The Mullerian system, which include the fallopian tubes, uterus, and upper portion of the vagina, typically regresses due to the presence of anti-mullerian hormone secreted from the Sertoli cells of the testes. Therefore, individuals with androgen insensitivity syndrome are born without fallopian tubes, uterus, and a rudimentary vagina.
Picmonic's rapid review multiple-choice quiz allows you to assess your knowledge.
*Average video play time: 2-3 minutes
Unforgettable characters with concise but impactful videos (2-4 min each)