A patient, who appears to be female, is found to be 46XY in genotype. The patient’s vagina is very shallow, ending in a blind pouch, and there are palpable masses in the labia. The diagnosis of testicular feminization syndrome is made. Which of the following was most likely present during the early fetal life of this individual?
Correct Answer: Mullerian inhibitory factor
Description: Testicular feminization is a disorder of the androgen receptor. Phenotypically, the patient appears female, but has a blindly ending vagina and lacks a uterus or other female internal reproductive organs. The patient has an XY genotype. Since the gene for testes determining factor (TDF) is on the Y chromosome, TDF will cause the indifferent gonad to develop into a testis containing Seoli cells. Seoli cells at this stage will secrete MIF, a substance that suppresses the paramesonephric ducts, preventing the formation of female internal reproductive organs. This patient would not have a streak ovary, a finding in Turner's syndrome that is associated with a 45,XO genotype. In fact, the patient would have testes, since the genetic complement contained a Y chromosome. The testes in individuals with testicular feminization syndrome are often undescended and are usually removed surgically. This patient would not possess a uterus or an oviduct. Both of these structures are derived from the paramesonephric duct, which is suppressed by MIF.
Category:
Anatomy
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