Testicular feminization syndrome.

  • Individuals with this syndrome are genetic males with a 46,XY karyotype, but they have normal female external genitalia and are raised as girls.
  • Pathogenesis.
    • The basic defect is resistance of target tissues to the action of androgens.
    • The fetal testes produce testosterone
    • Because the Wolffian ducts and genital tissues cannot respond to testosterone, female differentiation of the external genitalia takes place.
    • The fetal testes also produce Müllerian duct–inhibiting factor, which acts to inhibit the Müllerian anlage. As a consequence, the fallopian tubes, uterus, and upper vagina do not develop.
  • Clinical features.
    • The result is a phenotypic woman with a vagina that ends in a blind pouch, hypoplastic male ducts instead of the fallopian tubes and uterus, and testes located in the abdomen, inguinal canal, or labia majora.
    • Endogenous estrogen stimulates normal breast development at puberty.
    • The condition is suspected when menarche fails to occur or when a testis is felt as an abdominal mass, which is explored.
  • Therapy.
    • The testes are prone to malignant degeneration and should be removed.
    • Estrogen treatment is then given to maintain secondary sexual characteristics.

What Is The Definition Of Testicular feminization syndrome
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Testicular feminization syndrome – N. Vlahos
Testicular feminization syndrome (Androgen resistance)

17yo phenotypicalfemale with primary amenorrhea
Normal external genitalia
Normal breast development (Tanner III)

Complete Androgen Insensitivity Syndrome (Testicular Feminization) GENESYS FERTILITY CENTER
this is a case of a 26y old patient of female phenotype with perfectly normal secondary sexual characteristics. she has a mullerian remnant (rudimentary uterine horn) on her left side, along with the round ligament and a underdeveloped fallopian tube with fimbriae. there is only one gonad (testis), also on the left side. on her right side there is no gonadal or mullerian structure. blood caryotype shown a male genotype (46 XY)
How Is Testicular Feminization Inherited?