A girl has primary amenorrhea with normal ovaries, absent internal genitalia but normal external genitalia. Most probable diagnosis :
Mullerian agenesis, also called Mayer-Rokitansky-Kuster-Hauser syndrome or MRKH, named after August Franz Josef Karl Mayer, Carl Freiherr von Rokitansky, Hermann Kuster (1879-1964), and Georges Andre Hauser (1921-2009), is a congenital malformation characterized by a failure of the Mullerian duct to develop, resulting in a missing uterus and variable degrees of vaginal hypoplasia of its upper poion. Mullerian agenesis (including absence of the uterus, cervix and/or vagina) is the etiology in 15% of cases of primary amenorrhoea. Because most of the vagina does not develop from the Mullerian duct, instead developing from the urogenital sinus along with the bladder and urethra, it is present even when the Mullerian duct is completely absent. Ovaries are normal Hormonal levels are normal
Mayer-Rokitansky-Kuster-Hauser syndrome
Turner's syndrome
Noonan's
Androgen insensitivity syndrome
Sexuality and intersexuality