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 Ambiguous genitalia  



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Author10 Posts
  #1

A neonate was born with ambiguous genitalia. The clitoris is enlarged and there is a single perineal opening anterior to the anus. No masses are palpable in the labio-scrotal pouches or the inguinal canal. Which of the following is the most likely cause of the sexual ambiguity in this neonate??
A. Androgen Insensitivity Syndrome
B.21 Hydroxylase deficiency
C.Mixed Gonadal dysgenesis.
D.5 alpha reductase deficiency
E.True hermaphroditism




  #2

C.. by exclusion..


  #3

21 Hydroxylase deficiency.....


  #4

plz let us know which is correct


  #5

correct answer is
B.21 Hydroxylase deficiency


  #6

but why is there just a single opening in front of anus??raised eyebrow


  #7

would you plz give the explanation? thanks calstudent


  #8

if there just a single opening in front of anus, the neonate should be a male, then why couldn't it be 5alpha-reductase def?


  #9

Hey all,
sorry fr the delay to reply........
Ans is : B.21 Hydroxylase deficiency
Explanation:

Virilization of genetically female infants usually produces obvious genital ambiguity. Inside the pelvis, the ovaries are normal and since they have not been exposed to testicular antimullerian hormone, the uterus, fallopian tubes, upper vagina, and other mullerian structures are normally formed as well.

However, the high levels of testosterone in the blood can enlarge the phallus, partially or completely close the vaginal opening, enclose the urethral groove so that it opens at the base of the phallus, on the shaft or even at the tip like a boy.
Testosterone can cause the labial skin to become as thin and rugated as a scrotum, but cannot produce palpable gonads (i.e., testes) in the folds.

Thus, depending on the severity of hyperandrogenism, a female infant can be mildly affected, obviously ambiguous, or so severely virilized as to appear to be a male.


  #10

Thank yousmiling face





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