Mullerian Agenesis (aka: Mayer-Rokitansky-Kuster-Hauser Syndrome)
Underdevelopment of the Mullerian system leading to congential absence of the vagina. Usually no cervix or uterus.
May present as 1ยฐ amenorrhea (due to a lack of uterine development) in females with fully developed 2ยฐ sexual characteristics. Functional ovaries allow for normal sexual characteristics and hormone levels.
i think it is not androgen insensitivity because the testosterone levels are normal. They should be high in AIS.
I know it's tempting to think that this may be Androgen insensitivity syndrome but its not, for it to be AIS there needed to be an increase in testosterone. In this case it was in the normal range for a female. Now that we know the person is definitely female -> Mullerian agenesis becomes the best answer.
Rokitansky Kuser Hauser syndrome.
Hormones are normal as well as gonads.
INTERNAL GENITALIA are malformed (mainly uterus/tubes). Uterus can also be unicornate or there can be didelphysis or whatever that word is. though you don't need to know that long name by heart it helps with speed. Understand: Hormone profile is normal. If this patient had testes, the testosterone and estrogen would likely be opposite.
submitted by โstep420(32)
This is mullerian agenesis. Normal ovaries but absent uterus.