Androgen insensitivity (testicular feminization) syndrome or Incomplete Testicular Feminization is a rare inherited form of male pseudohermaphroditism that occurs in phenotypically normal women with adequate breast development, normal external genitalia, a vagina of variable depth, absent uterus, and sparse or absent pubic hair and axillary hair.
- These patients have male karyotype (XY) and negative sex chromatin. The gonad (undescended testis) may be intraabdominal, inguinal, or labial.
- The incidence of testicular feminization syndrome is reported to range between one in 2,000 to one in 62,400
- Individuals with are born phenotypically female, without any signs of genital masculinization, despite having a 46,XY karyotype.
- Symptoms of incomplete testicular feminization, do not appear until puberty, which may be slightly delayed, but is otherwise normal except for absent menses and diminished or absent secondary terminal hair.
- High maternal age is an associated risk factor with this disorder.
- This condition is more often found in female(identify themselves as females).
- There is no age-related risk factor, however, there is a lack of symptoms at an early age, while there is a high risk of testicular cancer after puberty due to the hormonal changes in the body.
- This disease does not have any ethnic or racial predisposition. However, studies show that the incidence is more commonly seen in the middle east and western Europe in aged pregnancies
Normal external genitalia,A vagina of variable depth,Absent uterus,Sparse or absent pubic hair and axillary hair
Male pseudohermaphroditism that occurs in phenotypically normal women
Genitoplasty,Gonadectomy in relation to tumor risk,Hormone replacement therapy,Genetic and psychological counseling